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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:Metabolic Brain Diseases, Inborn
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Accession:DOID:9005683 term browser browse the term
Definition:Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Synonyms:exact_synonym: CNS Metabolic Disorders, Inborn;   Central Nervous System Inborn Metabolic Diseases;   Central Nervous System Inborn Metabolic Disorders;   Familial Metabolic Brain Diseases;   Familial Metabolic Disorders, Brain;   Inborn Errors of Metabolism, Brain;   Inborn Metabolic Brain Disorders;   Inborn Metabolic Brain Syndrome;   Inherited Metabolic Brain Diseases;   Inherited Metabolic Disorders, Brain;   Metabolic Encephalopathies, Inborn
 primary_id: MESH:D020739
 alt_id: RDO:0000346

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Metabolic Brain Diseases, Inborn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732866 NCBI chrNW_004955414:19,188,830...19,197,728
Ensembl chrNW_004955414:19,187,388...19,197,728 		JBrowse link
G Glul glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267323 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309 		JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:23345593 NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Mc2r melanocortin 2 receptor ISO Familial glucocorticoid deficiency (ACTH resistance), OMIM:202200
familial glucocorticoid deficiency (ACTJ resistance), OMIM:202200		 RGD PMID:8094489 PMID:12213892 RGD:1600745 RGD:1600747 NCBI chrNW_004955402:190,513...225,627
Ensembl chrNW_004955402:190,513...225,627 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16200211 NCBI chrNW_004955446:7,345,467...7,439,885 JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO RGD PMID:18396137 RGD:6484689 NCBI chrNW_004955446:13,764,907...13,864,824
Ensembl chrNW_004955446:13,764,907...13,864,824 		JBrowse link
2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO L-2-hydroxyglutaricacidemia
DNA:mutations:exons:c.169G>A,c.542G>T(human)
CTD Direct Evidence: marker/mechanism		 OMIA
RGD
CTD		 PMID:11708646 PMID:12892272 PMID:12892307 PMID:15385440 PMID:15548604 More... RGD:13506814 RGD:13506815 NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria ClinVar PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900 		JBrowse link
3-methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc5 ATP binding cassette subfamily C member 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,447,920...23,522,732
Ensembl chrNW_004955420:23,447,920...23,522,732 		JBrowse link
G Abcf3 ATP binding cassette subfamily F member 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,271,925...23,280,988
Ensembl chrNW_004955420:23,268,615...23,281,041 		JBrowse link
G Alg3 ALG3 alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,236,686...23,241,936
Ensembl chrNW_004955420:23,236,686...23,241,936 		JBrowse link
G Ap2m1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,281,720...23,290,430
Ensembl chrNW_004955420:23,281,720...23,290,430 		JBrowse link
G B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:24,029,867...24,061,801
Ensembl chrNW_004955420:24,046,485...24,047,624 		JBrowse link
G Camk2n2 calcium/calmodulin dependent protein kinase II inhibitor 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,226,270...23,227,403
Ensembl chrNW_004955420:23,226,264...23,227,409 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,138,558...23,152,462
Ensembl chrNW_004955420:23,138,605...23,152,311 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,291,650...23,301,695
Ensembl chrNW_004955420:23,293,222...23,301,694 		JBrowse link
G Ece2 endothelin converting enzyme 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,199,627...23,217,078
Ensembl chrNW_004955420:23,202,668...23,235,977 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,313,405...23,322,748
Ensembl chrNW_004955420:23,309,378...23,322,698 		JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,161,541...23,179,788
Ensembl chrNW_004955420:23,161,078...23,180,568 		JBrowse link
G Fam131a family with sequence similarity 131 member A ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,152,571...23,160,374
Ensembl chrNW_004955420:23,152,571...23,160,374 		JBrowse link
G Klhl24 kelch like family member 24 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301 		JBrowse link
G Klhl6 kelch like family member 6 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,813,482...23,877,886 JBrowse link
G Lamp3 lysosomal associated membrane protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:24,155,793...24,185,366 JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM
ClinVar		 PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 More... NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338 		JBrowse link
G Mcf2l2 MCF.2 cell line derived transforming sequence-like 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,908,113...24,131,684
Ensembl chrNW_004955420:23,916,150...24,132,307 		JBrowse link
G Parl presenilin associated rhomboid like ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,549,125...23,581,782
Ensembl chrNW_004955420:23,548,672...23,582,137 		JBrowse link
G Polr2h RNA polymerase II, I and III subunit H ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,132,053...23,136,954
Ensembl chrNW_004955420:23,131,297...23,136,800 		JBrowse link
G Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,184,914...23,194,809
Ensembl chrNW_004955420:23,184,751...23,194,809 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,120,828...23,128,894
Ensembl chrNW_004955420:23,123,637...23,129,198 		JBrowse link
G Vwa5b2 von Willebrand factor A domain containing 5B2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,243,197...23,253,202
Ensembl chrNW_004955420:23,242,396...23,251,352 		JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004955420:23,590,636...23,666,689
Ensembl chrNW_004955420:23,589,071...23,666,680 		JBrowse link
3-methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 BDP1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955575:330,683...430,269 JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2 ClinVar
OMIM		 PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 More... NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040 		JBrowse link
3-methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 More... NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:9536098 PMID:11170888 PMID:11181649 PMID:14680978 PMID:16010683 More... NCBI chrNW_004955575:445,627...503,891
Ensembl chrNW_004955575:445,619...505,040 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480 		JBrowse link
G Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:20,050,619...20,132,893
Ensembl chrNW_004955439:20,050,619...20,132,893 		JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907 		JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:3,833,525...3,842,393
Ensembl chrNW_004955439:3,833,525...3,842,393 		JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:3,701,722...3,740,345
Ensembl chrNW_004955439:3,703,013...3,740,345 		JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:3,251,851...3,356,679
Ensembl chrNW_004955439:3,252,529...3,325,567 		JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:4,226,530...4,234,390
Ensembl chrNW_004955439:4,226,530...4,234,261 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281 		JBrowse link
G Map3k4 mitogen-activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:20,144,059...20,263,885
Ensembl chrNW_004955439:20,144,059...20,263,879 		JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:20,956,862...20,957,839
Ensembl chrNW_004955439:20,956,862...20,957,839 		JBrowse link
G Mrpl18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:21,059,736...21,067,100
Ensembl chrNW_004955439:21,058,187...21,067,100 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:20,317,814...20,366,724
Ensembl chrNW_004955439:20,317,552...20,366,475 		JBrowse link
G Pnldc1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:21,039,638...21,058,558
Ensembl chrNW_004955439:21,035,825...21,058,549 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:3,510,076...3,533,924
Ensembl chrNW_004955439:3,509,395...3,534,392 		JBrowse link
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related neurological disorder OMIM
ClinVar		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chrNW_004955439:4,234,440...4,291,947
Ensembl chrNW_004955439:4,234,382...4,291,941 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105 		JBrowse link
G Slc22a3 solute carrier family 22 member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:20,367,324...20,476,891
Ensembl chrNW_004955439:20,367,333...20,476,891 		JBrowse link
G Sod2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Sytl3 synaptotagmin like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:3,740,044...3,825,954
Ensembl chrNW_004955439:3,741,185...3,813,670 		JBrowse link
G Tagap T cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:3,479,041...3,488,403
Ensembl chrNW_004955439:3,478,708...3,488,777 		JBrowse link
G Tcp1 t-complex 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:21,114,038...21,124,379 JBrowse link
G Tmem181 transmembrane protein 181 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:3,843,823...3,914,702
Ensembl chrNW_004955439:3,843,823...3,900,108 		JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:3,935,422...4,121,780
Ensembl chrNW_004955439:3,940,098...4,119,874 		JBrowse link
G Wtap WT1 associated protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004955439:21,149,970...21,174,479
Ensembl chrNW_004955439:21,146,206...21,182,486 		JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO ClinVar Annotator: match by term: ABCD1-related condition | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy OMIM
ClinVar
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chrNW_004955450:703,874...744,782
Ensembl chrNW_004955450:701,517...745,126 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:586,986...600,299 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:941,620...947,763 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955593:911,641...911,919 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955412:5,965,388...5,976,353
Ensembl chrNW_004955412:5,965,394...5,976,382 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chrNW_004955454:6,097,251...6,115,430 JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439 		JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:419,696...426,727 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:803,406...816,735 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:781,339...791,284 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118 		JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:185,250...197,329
Ensembl chrNW_004955580:190,538...193,967 		JBrowse link
G Znf185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,185,997...8,248,910
Ensembl chrNW_004955498:8,185,994...8,253,209 		JBrowse link
Adult Refsum Disease, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Refsum disease, adult, 1 ClinVar PMID:1155634 PMID:2433405 PMID:9326939 PMID:9326940 PMID:9657395 More... NCBI chrNW_004955462:1,238,622...1,250,731
Ensembl chrNW_004955462:1,238,622...1,250,736 		JBrowse link
adult-onset type II citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset ClinVar PMID:25741868 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia OMIM
ClinVar		 PMID:855835 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 More... NCBI chrNW_004955432:12,685,253...12,788,307
Ensembl chrNW_004955432:12,684,596...12,826,667 		JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chrNW_004955432:9,220,318...9,358,728
Ensembl chrNW_004955432:9,220,318...9,358,728 		JBrowse link
G Krit1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955432:9,168,678...9,219,947
Ensembl chrNW_004955432:9,171,216...9,219,946 		JBrowse link
argininosuccinic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria OMIM
ClinVar		 PMID:705937 PMID:1705937 PMID:2263616 PMID:9045711 PMID:9256435 More... NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992 		JBrowse link
G Crcp CGRP receptor component ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,431,161...8,479,866
Ensembl chrNW_004955456:8,431,161...8,483,181 		JBrowse link
G Gusb glucuronidase beta ISO ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:19224584 PMID:28492532 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,627,763...8,637,882
Ensembl chrNW_004955456:8,627,763...8,636,206 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:25741868 PMID:28492532 PMID:30569574 PMID:34627339 PMID:35234134 NCBI chrNW_004955532:3,707,680...3,790,565
Ensembl chrNW_004955532:3,708,274...3,789,797 		JBrowse link
G Rabgef1 RAB guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,648,925...8,716,337
Ensembl chrNW_004955456:8,674,469...8,718,821 		JBrowse link
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,773,917...8,782,427 JBrowse link
G Tmem248 transmembrane protein 248 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,730,374...8,762,549
Ensembl chrNW_004955456:8,730,038...8,762,549 		JBrowse link
G Tpst1 tyrosylprotein sulfotransferase 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,523,362...8,616,891
Ensembl chrNW_004955456:8,520,906...8,618,107 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460 		JBrowse link
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency OMIM
ClinVar		 PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:8554069 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
Atypical Krabbe Disease due to Saposin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency OMIM
ClinVar		 PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chrNW_004955417:3,388,110...3,402,798
Ensembl chrNW_004955417:3,386,087...3,402,363 		JBrowse link
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909 		JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,838,260...13,872,886
Ensembl chrNW_004955412:13,837,782...13,872,886 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,137,273...13,250,261
Ensembl chrNW_004955412:13,183,524...13,247,882 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426 		JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,254,671...13,275,832
Ensembl chrNW_004955412:13,258,703...13,275,876 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727 		JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,282,871...13,298,214
Ensembl chrNW_004955412:13,280,327...13,297,833 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,755,704...13,765,047
Ensembl chrNW_004955412:13,755,817...13,765,047 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency ClinVar PMID:1301200 PMID:7833954 PMID:7981714 PMID:8088845 PMID:8268925 More... NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,748,120...13,755,498
Ensembl chrNW_004955412:13,748,325...13,754,130 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,131,229...13,167,150
Ensembl chrNW_004955412:13,131,168...13,156,128 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,090,206...13,098,642
Ensembl chrNW_004955412:13,090,206...13,098,826 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,458,078...13,494,583
Ensembl chrNW_004955412:13,458,136...13,494,585 		JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency OMIM
ClinVar		 PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 More... NCBI chrNW_004955412:13,880,937...13,888,562
Ensembl chrNW_004955412:13,880,937...13,888,562 		JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chrNW_004955480:6,646,088...6,666,866
Ensembl chrNW_004955480:6,646,088...6,669,526 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932 		JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,342,032...13,458,076
Ensembl chrNW_004955412:13,342,032...13,457,563 		JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:7563095 PMID:19830588 PMID:20059486 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955412:13,829,637...13,834,481
Ensembl chrNW_004955412:13,831,353...13,834,481 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,766,532...13,768,453
Ensembl chrNW_004955412:13,766,532...13,768,453 		JBrowse link
BH4-deficient hyperphenylalaninemia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B OMIM
ClinVar		 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9536098 More... NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614 		JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B ClinVar PMID:7493990 PMID:8707300 PMID:9450907 PMID:10319579 PMID:11388593 More... NCBI chrNW_004955412:13,880,937...13,888,562
Ensembl chrNW_004955412:13,880,937...13,888,562 		JBrowse link
BH4-deficient hyperphenylalaninemia C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency OMIM
ClinVar		 PMID:1283784 PMID:2116088 PMID:7627180 PMID:8326489 PMID:8518287 More... NCBI chrNW_004955480:6,646,088...6,666,866
Ensembl chrNW_004955480:6,646,088...6,669,526 		JBrowse link
BH4-deficient hyperphenylalaninemia D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency OMIM
ClinVar		 PMID:958615 PMID:8352282 PMID:8618906 PMID:9585615 PMID:9760199 More... NCBI chrNW_004955437:20,482,589...20,487,337
Ensembl chrNW_004955437:20,482,589...20,488,249 		JBrowse link
branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:8,295,868...8,302,638
Ensembl chrNW_004955493:8,295,868...8,304,520 		JBrowse link
G Bckdk branched chain keto acid dehydrogenase kinase ISO ClinVar Annotator: match by term: BCKDK-related condition | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22956686 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955493:7,940,358...7,946,317
Ensembl chrNW_004955493:7,940,315...7,946,317 		JBrowse link
G Bcl7c BAF chromatin remodeling complex subunit BCL7C ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,728,229...7,733,086
Ensembl chrNW_004955493:7,693,084...7,733,086 		JBrowse link
G Cfap119 cilia and flagella associated protein 119 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,622,564...7,627,094
Ensembl chrNW_004955493:7,622,564...7,627,093 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,735,996...7,737,559 JBrowse link
G Fbrs fibrosin ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,520,982...7,530,862 JBrowse link
G Fbxl19 F-box and leucine rich repeat protein 19 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,768,802...7,798,546
Ensembl chrNW_004955493:7,768,802...7,798,546 		JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,835,160...7,838,428
Ensembl chrNW_004955493:7,835,160...7,838,428 		JBrowse link
G Itgad integrin subunit alpha D ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:8,233,098...8,260,613 JBrowse link
G Itgam integrin subunit alpha M ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759 		JBrowse link
G Itgax integrin subunit alpha X ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:8,196,593...8,220,296 JBrowse link
G LOC102006357 cytochrome c oxidase subunit 6A2, mitochondrial ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:8,261,297...8,261,961
Ensembl chrNW_004955493:8,261,043...8,262,368 		JBrowse link
G Orai3 ORAI calcium release-activated calcium modulator 3 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,799,738...7,806,590
Ensembl chrNW_004955493:7,799,738...7,806,590 		JBrowse link
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,612,251...7,622,486
Ensembl chrNW_004955493:7,612,251...7,622,486 		JBrowse link
G Prr14 proline rich 14 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,512,420...7,518,310
Ensembl chrNW_004955493:7,513,160...7,518,178 		JBrowse link
G Prss36 serine protease 36 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,979,080...7,985,028
Ensembl chrNW_004955493:7,979,292...7,990,673 		JBrowse link
G Prss53 serine protease 53 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,921,335...7,927,233
Ensembl chrNW_004955493:7,921,408...7,925,708 		JBrowse link
G Prss8 serine protease 8 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,970,929...7,976,885
Ensembl chrNW_004955493:7,971,609...7,976,666 		JBrowse link
G Rnf40 ring finger protein 40 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,627,189...7,640,711
Ensembl chrNW_004955493:7,627,189...7,640,711 		JBrowse link
G Rusf1 RUS family member 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:8,329,618...8,341,009
Ensembl chrNW_004955493:8,329,810...8,340,910 		JBrowse link
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,808,652...7,834,886
Ensembl chrNW_004955493:7,808,652...7,834,880 		JBrowse link
G Slc5a2 solute carrier family 5 member 2 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:8,322,972...8,329,886
Ensembl chrNW_004955493:8,322,597...8,329,646 		JBrowse link
G Srcap Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,554,724...7,602,560
Ensembl chrNW_004955493:7,559,723...7,602,535 		JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,838,684...7,857,700
Ensembl chrNW_004955493:7,838,684...7,857,700 		JBrowse link
G Tgfb1i1 transforming growth factor beta 1 induced transcript 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:8,309,480...8,315,378
Ensembl chrNW_004955493:8,309,505...8,315,668 		JBrowse link
G Trim72 tripartite motif containing 72 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:8,074,521...8,091,611
Ensembl chrNW_004955493:8,074,130...8,091,821 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex subunit 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,928,516...7,931,265 JBrowse link
G Znf629 zinc finger protein 629 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,641,141...7,649,927
Ensembl chrNW_004955493:7,641,141...7,649,927 		JBrowse link
G Znf646 zinc finger protein 646 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,911,685...7,921,385
Ensembl chrNW_004955493:7,913,712...7,920,695 		JBrowse link
G Znf668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,902,527...7,911,616
Ensembl chrNW_004955493:7,902,527...7,905,135 		JBrowse link
G Znf688 zinc finger protein 688 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,473,597...7,477,660 JBrowse link
G Znf689 zinc finger protein 689 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955759:5,615...11,900
Ensembl chrNW_004955759:2,457...11,900 		JBrowse link
G Znf764 zinc finger protein 764 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chrNW_004955493:7,451,270...7,454,337 JBrowse link
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Congenital hyperammonemia, type I ClinVar PMID:24871971 PMID:25741868 PMID:28492532 PMID:31130284 NCBI chrNW_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Congenital hyperammonemia, type I OMIM
ClinVar		 PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More... NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246 		JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955506:2,783,837...2,840,248
Ensembl chrNW_004955506:2,784,548...2,838,026 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM ClinVar PMID:1856189 PMID:1895140 PMID:2111708 PMID:2203258 PMID:2510307 More... NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231 		JBrowse link
cerebral creatine deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:586,986...600,299 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: X-linked creatine deficiency syndrome ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:941,620...947,763 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: X-linked creatine deficiency syndrome ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955593:911,641...911,919 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439 		JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency | ClinVar Annotator: match by term: SLC6A8-related condition | ClinVar Annotator: match by term: X-linked creatine deficiency syndrome OMIM
ClinVar		 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11326334 PMID:11379875 More... NCBI chrNW_004955580:419,696...426,727 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:803,406...816,735 JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency ClinVar PMID:26467025 NCBI chrNW_004955439:9,131,227...9,574,112 JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:781,339...791,284 JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency ClinVar PMID:25741868 NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:185,250...197,329
Ensembl chrNW_004955580:190,538...193,967 		JBrowse link
G Znf185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,185,997...8,248,910
Ensembl chrNW_004955498:8,185,994...8,253,209 		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 PMID:32901917 PMID:33584783 More... NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		JBrowse link
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM
ClinVar		 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chrNW_004955461:7,787,068...7,836,380
Ensembl chrNW_004955461:7,786,850...7,836,922 		JBrowse link
citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28670130 PMID:37480112 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771 		JBrowse link
G Ass1 argininosuccinate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild
ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria		 RGD
ClinVar		 PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... RGD:1599301 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chrNW_004955513:639,798...648,360
Ensembl chrNW_004955513:639,731...651,418 		JBrowse link
G Fubp3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chrNW_004955513:548,202...595,427
Ensembl chrNW_004955513:548,139...595,479 		JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chrNW_004955513:612,566...627,848
Ensembl chrNW_004955513:612,566...627,323 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:855835 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11343052 More... NCBI chrNW_004955432:12,685,253...12,788,307
Ensembl chrNW_004955432:12,684,596...12,826,667 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197 		JBrowse link
Citrullinemia Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO protein:altered expression:liver RGD PMID:3369364 RGD:13628398 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II ClinVar PMID:855835 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 More... NCBI chrNW_004955432:12,685,253...12,788,307
Ensembl chrNW_004955432:12,684,596...12,826,667 		JBrowse link
classic citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I OMIM
ClinVar		 PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: argininosuccinate synthetase deficiency ClinVar PMID:11941481 PMID:25741868 PMID:28492532 NCBI chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I ClinVar PMID:10369257 PMID:14680984 PMID:16199547 PMID:23022256 PMID:23053473 More... NCBI chrNW_004955432:12,685,253...12,788,307
Ensembl chrNW_004955432:12,684,596...12,826,667 		JBrowse link
classic galactosemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: GALACTOSEMIA I | ClinVar Annotator: match by term: GALT-related condition OMIM
ClinVar		 PMID:1301925 PMID:1373122 PMID:1610789 PMID:1766867 PMID:1897530 More... NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986 		JBrowse link
combined D-2- and L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria OMIM
ClinVar		 PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900 		JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:19,381,279...19,487,057
Ensembl chrNW_004955437:19,381,279...19,490,822 		JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:19,563,645...19,605,747
Ensembl chrNW_004955437:19,563,088...19,569,889 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency		 ClinVar
OMIM		 PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G Spock2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:19,494,102...19,519,218
Ensembl chrNW_004955437:19,494,536...19,515,884 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chrNW_004955437:19,716,466...19,743,428 JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 OMIM
ClinVar		 PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to ClinVar PMID:8968745 PMID:9934985 PMID:28492532 NCBI chrNW_004955410:12,102,356...12,128,620
Ensembl chrNW_004955410:12,102,356...12,128,620 		JBrowse link
Copper-Overload Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955424:21,962,837...22,067,745
Ensembl chrNW_004955424:21,927,079...22,050,371 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058 		JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955547:2,584,425...2,598,770
Ensembl chrNW_004955547:2,533,377...2,598,833 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955477:5,847,288...5,875,970 JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25604855 PMID:25741868 PMID:28492532 PMID:30279455 NCBI chrNW_004955407:25,725,259...25,973,582
Ensembl chrNW_004955407:25,722,849...25,974,268 		JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type OMIM
ClinVar		 PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:11815350 More... NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
D-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363 		JBrowse link
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:910,258...943,546
Ensembl chrNW_004955542:910,251...943,389 		JBrowse link
G Asb1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,243,381...2,255,747
Ensembl chrNW_004955542:2,243,381...2,255,747 		JBrowse link
G Atg4b autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:164,969...192,498
Ensembl chrNW_004955542:166,365...193,006 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:224,471...232,401
Ensembl chrNW_004955542:224,471...232,428 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:874,083...885,085
Ensembl chrNW_004955542:874,083...885,084 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,131,110...1,135,871
Ensembl chrNW_004955542:1,131,110...1,135,871 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 | ClinVar Annotator: match by term: D2HGDH-related condition OMIM
ClinVar		 PMID:7609436 PMID:9536098 PMID:15609246 PMID:16037974 PMID:16081310 More... NCBI chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:155,741...163,759
Ensembl chrNW_004955542:155,742...163,759 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:909,239...911,139
Ensembl chrNW_004955542:909,917...910,646 		JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,408,504...2,415,522
Ensembl chrNW_004955542:2,409,988...2,415,522 		JBrowse link
G Espnl espin like ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,430,610...2,453,738
Ensembl chrNW_004955542:2,430,712...2,453,361 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:279,489...395,524
Ensembl chrNW_004955542:280,008...379,166 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:82,972...94,041
Ensembl chrNW_004955542:84,629...87,356 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:947,556...968,295
Ensembl chrNW_004955542:947,556...968,295 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:851,895...856,688
Ensembl chrNW_004955542:851,895...856,688 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:444,221...505,512
Ensembl chrNW_004955542:444,258...510,065 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,373,241...2,374,827
Ensembl chrNW_004955542:2,373,370...2,374,272 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,391,432...2,407,559
Ensembl chrNW_004955542:2,391,431...2,408,732 		JBrowse link
G Ing5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:135,634...160,991
Ensembl chrNW_004955542:132,560...148,138 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:756,834...832,805
Ensembl chrNW_004955542:756,835...832,889 		JBrowse link
G Klhl30 kelch like family member 30 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,418,399...2,427,571
Ensembl chrNW_004955542:2,418,324...2,428,062 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,632,933...2,737,922
Ensembl chrNW_004955542:2,632,933...2,686,865 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:699,717...708,760
Ensembl chrNW_004955542:701,633...709,315 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,769,709...2,807,768
Ensembl chrNW_004955542:2,769,649...2,802,672 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:579,183...584,617
Ensembl chrNW_004955542:579,356...584,508 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,329,802...1,370,109
Ensembl chrNW_004955542:1,329,212...1,370,695 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:66,214...70,456
Ensembl chrNW_004955542:66,174...71,058 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,128,036...1,129,445
Ensembl chrNW_004955542:1,128,036...1,129,445 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:539,806...578,496
Ensembl chrNW_004955542:555,030...578,227 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,331,547...2,369,011
Ensembl chrNW_004955542:2,338,099...2,371,274 		JBrowse link
G Ppp1r7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:520,605...539,699 JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,765,578...2,768,057
Ensembl chrNW_004955542:2,765,566...2,766,371 		JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,751,953...2,759,661 JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,530,349...2,564,072 JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,573,648...2,620,240
Ensembl chrNW_004955542:2,571,203...2,620,313 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:897,708...906,011
Ensembl chrNW_004955542:898,462...906,703 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,453,826...2,472,951
Ensembl chrNW_004955542:2,454,708...2,472,851 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:401,081...444,304
Ensembl chrNW_004955542:401,081...443,962 		JBrowse link
G Sned1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:587,159...628,159
Ensembl chrNW_004955542:589,746...627,519 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:268,406...279,323
Ensembl chrNW_004955542:272,715...280,110 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:192,888...217,985
Ensembl chrNW_004955542:195,088...217,831 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,264,472...2,301,083
Ensembl chrNW_004955542:2,265,901...2,301,215 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,959,765...2,000,665
Ensembl chrNW_004955542:1,959,765...2,000,665 		JBrowse link
G Ube2f ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,480,455...2,515,982
Ensembl chrNW_004955542:2,480,455...2,515,986 		JBrowse link
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,878,972...15,983,322
Ensembl chrNW_004955416:15,884,624...15,983,322 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:16,125,536...16,186,046 JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,415,981...15,442,032
Ensembl chrNW_004955416:15,424,932...15,444,075 		JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:14,814,753...14,899,865
Ensembl chrNW_004955416:14,842,033...14,899,687 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,102,632...15,106,372
Ensembl chrNW_004955416:15,102,632...15,106,372 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:14,672,291...14,768,879
Ensembl chrNW_004955416:14,672,291...14,765,893 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,948,121...14,959,035
Ensembl chrNW_004955416:14,948,123...14,960,005 		JBrowse link
G Furin furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,915,031...14,947,634
Ensembl chrNW_004955416:14,936,546...14,949,252 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,098,922...15,102,499
Ensembl chrNW_004955416:15,098,922...15,102,499 		JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:16,105,937...16,122,114
Ensembl chrNW_004955416:16,105,772...16,122,139 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,993,492...14,995,818
Ensembl chrNW_004955416:14,990,031...14,995,818 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 | ClinVar Annotator: match by term: IDH2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17407155 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363 		JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:14,558,628...14,652,031
Ensembl chrNW_004955416:14,560,292...14,650,036 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985 		JBrowse link
G LOC102024459 arpin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,340,070...15,399,017 JBrowse link
G Man2a2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,961,405...14,990,284 JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,447,959...15,450,209 JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:16,092,263...16,103,097
Ensembl chrNW_004955416:16,091,684...16,103,768 		JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,074,190...15,080,561
Ensembl chrNW_004955416:15,074,190...15,080,561 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,527,925...15,537,497
Ensembl chrNW_004955416:15,527,941...15,534,424 		JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,538,309...15,549,275
Ensembl chrNW_004955416:15,533,268...15,549,772 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,023,620...15,045,958
Ensembl chrNW_004955416:15,023,620...15,045,958 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,013,595...15,020,038
Ensembl chrNW_004955416:15,014,340...15,019,173 		JBrowse link
G Rhcg Rh family C glycoprotein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,639,425...15,657,708
Ensembl chrNW_004955416:15,639,551...15,654,293 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,862,510...15,873,261
Ensembl chrNW_004955416:15,862,426...15,873,327 		JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,107,258...15,143,338
Ensembl chrNW_004955416:15,108,175...15,130,746 		JBrowse link
G Ticrr TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,572,789...15,615,556
Ensembl chrNW_004955416:15,572,331...15,615,603 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,999,692...15,012,581
Ensembl chrNW_004955416:14,999,375...15,012,581 		JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,049,849...15,071,108
Ensembl chrNW_004955416:15,048,106...15,071,102 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,472,866...15,527,853
Ensembl chrNW_004955416:15,472,742...15,517,144 		JBrowse link
G Znf710 zinc finger protein 710 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:17407155 PMID:28492532 NCBI chrNW_004955416:15,215,542...15,278,742 JBrowse link
developmental and epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: SLC25A12-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 More... NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737 		JBrowse link
encephalopathy due to defective mitochondrial and peroxisomal fission 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chrNW_004955507:2,384...25,105
Ensembl chrNW_004955507:2,296...26,911 		JBrowse link
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: DNM1L-related condition | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 OMIM
ClinVar		 PMID:9536098 PMID:12618434 PMID:17460227 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680 		JBrowse link
G Osbpl7 oxysterol binding protein like 7 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chrNW_004955451:13,289,938...13,301,243
Ensembl chrNW_004955451:13,291,577...13,300,322 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chrNW_004955505:3,004,084...3,011,003
Ensembl chrNW_004955505:3,004,146...3,010,735 		JBrowse link
encephalopathy due to defective mitochondrial and peroxisomal fission 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mff mitochondrial fission factor ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | ClinVar Annotator: match by term: MFF-related condition OMIM
ClinVar		 PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:28492532 More... NCBI chrNW_004955453:7,221,244...7,256,029 JBrowse link
ENCEPHALOPATHY, PORPHYRIA-RELATED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Encephalopathy, porphyria-related OMIM
ClinVar		 PMID:1301948 PMID:1496994 PMID:1577472 PMID:2243128 PMID:2246851 More... NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635 		JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chrNW_004955503:7,383,567...7,423,489
Ensembl chrNW_004955503:7,383,567...7,426,124 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:25741868 PMID:33547378 PMID:37597066 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease OMIM
ClinVar		 PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 More... NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:7531540 PMID:10666480 PMID:11889412 PMID:12175777 PMID:15661032 More... NCBI chrNW_004955503:7,535,987...7,541,622 JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chrNW_004955422:29,141,699...29,154,927
Ensembl chrNW_004955422:29,141,348...29,154,927 		JBrowse link
G Rpl36a ribosomal protein L36a ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chrNW_004955503:7,520,530...7,523,593 JBrowse link
G Taf7l TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chrNW_004955503:7,429,876...7,451,051 JBrowse link
G Timm8a translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chrNW_004955503:7,480,075...7,483,218
Ensembl chrNW_004955503:7,480,075...7,483,218 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817 		JBrowse link
Farber lipogranulomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: ASAH1-related condition | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency OMIM
ClinVar		 PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More... NCBI chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
Free Sialic Acid Storage Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) ClinVar PMID:2010546 PMID:2334213 PMID:7151835 PMID:10069709 PMID:10546100 More... NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250 		JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: LRPPRC-related condition | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian
ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian		 OMIM
ClinVar		 PMID:9536098 PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 More... NCBI chrNW_004955441:11,012,910...11,116,965 JBrowse link
G Surf1 surfeit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chrNW_004955513:2,707,877...2,711,606
Ensembl chrNW_004955513:2,707,951...2,711,566 		JBrowse link
French Type Sialuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Sialuria, French type ClinVar PMID:9536098 PMID:11528398 PMID:12473753 PMID:12473780 PMID:12497639 More... NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		JBrowse link
fucosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Fucosidosis ClinVar PMID:25741868 NCBI chrNW_004955490:4,354,307...4,469,055
Ensembl chrNW_004955490:4,354,307...4,469,055 		JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO ClinVar Annotator: match by term: Fucosidosis OMIM
ClinVar		 PMID:1214294 PMID:1281988 PMID:2012122 PMID:2642067 PMID:7581404 More... NCBI chrNW_004955452:3,744,071...3,759,776
Ensembl chrNW_004955452:3,744,755...3,759,676 		JBrowse link
galactokinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Deficiency of galactokinase | ClinVar Annotator: match by term: GALK1-related condition | ClinVar Annotator: match by term: Galactokinase deficiency with cataracts OMIM
ClinVar		 PMID:7670469 PMID:9536098 PMID:10521295 PMID:10570908 PMID:10790206 More... NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar PMID:10790206 PMID:11328943 PMID:16199547 PMID:16473856 PMID:23496044 More... NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778 		JBrowse link
galactose epimerase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency OMIM
ClinVar		 PMID:6408303 PMID:7305435 PMID:8798725 PMID:9326324 PMID:9536098 More... NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar PMID:8798725 PMID:9784232 PMID:9817922 PMID:14518825 PMID:16301867 More... NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192 		JBrowse link
galactosemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,234,770...2,239,753
Ensembl chrNW_004955472:2,234,770...2,240,027 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,283,426...2,297,251 JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:633,474...636,440
Ensembl chrNW_004955472:633,405...640,305 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,503,448...1,510,965
Ensembl chrNW_004955472:1,504,032...1,510,590 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,066,661...1,077,960
Ensembl chrNW_004955472:1,071,615...1,077,960 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,490,649...2,536,053
Ensembl chrNW_004955472:2,490,661...2,536,317 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,394,317...2,405,199 JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:619,084...625,570
Ensembl chrNW_004955472:619,245...625,051 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:636,633...640,198
Ensembl chrNW_004955472:633,405...640,175 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004958151:6...1,111 JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,427,660...1,428,771
Ensembl chrNW_004955472:1,427,710...1,429,102 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,470,407...1,474,800
Ensembl chrNW_004955472:1,471,551...1,474,777 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:663,451...670,890 JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:695,955...698,086
Ensembl chrNW_004955472:696,157...697,922 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:96,958...117,230
Ensembl chrNW_004955472:97,235...117,144 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,540,973...1,577,734
Ensembl chrNW_004955472:1,540,973...1,579,947 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:564,227...568,708
Ensembl chrNW_004955472:564,493...568,491 		JBrowse link
G Cryaa crystallin alpha A ISO mRNA:decreased expression:lens RGD PMID:1707863 RGD:1600994 NCBI chrNW_004955407:38,880,088...38,892,946
Ensembl chrNW_004955407:38,880,086...38,925,642 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,943,477...1,974,938
Ensembl chrNW_004955472:1,943,477...1,974,938 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,511,984...1,521,148
Ensembl chrNW_004955472:1,511,937...1,521,494 		JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO Protein:increased expression:lens epithelium RGD PMID:16936110 RGD:1599728 NCBI chrNW_004955458:5,232,979...5,238,513
Ensembl chrNW_004955458:5,232,979...5,238,513 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,599,265...1,668,214
Ensembl chrNW_004955472:1,599,493...1,668,024 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,604,002...2,618,033
Ensembl chrNW_004955472:2,604,002...2,618,033 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,168,568...1,177,849
Ensembl chrNW_004955472:1,167,160...1,178,726 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,597,488...1,599,274
Ensembl chrNW_004955472:1,503,498...1,599,274 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:28,683,896...28,692,006
Ensembl chrNW_004955419:28,683,896...28,693,395 		JBrowse link
G Fam219a family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,668,400...1,718,194
Ensembl chrNW_004955472:1,668,431...1,718,187 		JBrowse link
G Fam221b family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:489,530...497,224
Ensembl chrNW_004955472:491,251...497,186 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:28,915,083...28,969,374
Ensembl chrNW_004955419:28,897,288...28,969,374 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:28,717,277...28,888,486
Ensembl chrNW_004955419:28,716,494...28,888,495 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Hereditary galactokinase deficiency ClinVar PMID:7670469 PMID:10790206 PMID:11231902 PMID:12694189 PMID:12942049 More... NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar Annotator: match by term: Galactosemia ClinVar PMID:1301925 PMID:1373122 PMID:1427861 PMID:1610789 PMID:1766867 More... NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:553,556...564,411
Ensembl chrNW_004955472:553,556...564,411 		JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:191,886...201,551
Ensembl chrNW_004955472:189,858...201,549 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:500,845...503,067 JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:11286505 PMID:15841485 PMID:17079880 PMID:22944367 PMID:28492532 NCBI chrNW_004955472:1,474,802...1,485,352
Ensembl chrNW_004955472:1,475,178...1,482,206 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,774,850...1,868,525
Ensembl chrNW_004955472:1,792,520...1,860,056 		JBrowse link
G LOC102009376 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:452,846...454,056
Ensembl chrNW_004955472:452,944...453,879 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:29,718,291...29,815,163
Ensembl chrNW_004955419:29,717,978...29,815,170 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:549,115...550,247
Ensembl chrNW_004955472:549,115...550,247 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,735,292...1,740,304
Ensembl chrNW_004955472:1,735,292...1,740,304 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:3,054,026...3,064,530
Ensembl chrNW_004955472:3,054,154...3,064,433 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,306,961...2,371,597
Ensembl chrNW_004955472:2,307,682...2,371,433 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,210,490...2,225,275
Ensembl chrNW_004955472:2,211,079...2,224,259 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:506,351...523,647
Ensembl chrNW_004955472:506,351...523,316 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:29,395,631...29,577,272
Ensembl chrNW_004955419:29,395,389...29,570,952 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,186,021...1,204,018
Ensembl chrNW_004955472:1,185,110...1,204,040 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,084,932...1,094,243
Ensembl chrNW_004955472:1,084,932...1,094,243 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:28,970,982...28,983,862
Ensembl chrNW_004955419:28,967,083...28,983,862 		JBrowse link
G Reck reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:222,261...276,869
Ensembl chrNW_004955472:223,683...287,089 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:550,198...554,038
Ensembl chrNW_004955472:550,198...554,038 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:3,093,895...3,135,524
Ensembl chrNW_004955472:3,093,939...3,133,987 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:29,903,917...30,063,705
Ensembl chrNW_004955419:29,993,358...30,063,705 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,521,651...1,522,599 JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:698,021...742,966
Ensembl chrNW_004955472:698,513...741,758 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,493,896...1,496,377
Ensembl chrNW_004955472:1,493,896...1,496,377 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:643,923...645,802 JBrowse link
G Smu1 SMU1 DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,570,248...2,600,551
Ensembl chrNW_004955472:2,570,340...2,600,146 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:503,286...506,261
Ensembl chrNW_004955472:504,087...505,835 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004958072:16...1,146 JBrowse link
G Spink4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,406,279...2,415,668
Ensembl chrNW_004955472:2,406,279...2,415,668 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,718,474...1,733,980
Ensembl chrNW_004955472:1,718,517...1,735,004 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,079,261...1,082,632
Ensembl chrNW_004955472:1,079,578...1,082,486 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:670,847...676,060
Ensembl chrNW_004955472:668,352...699,620 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:568,939...603,676
Ensembl chrNW_004955472:568,939...603,676 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,875,398...2,879,115
Ensembl chrNW_004955472:2,875,398...2,879,115 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:467,027...489,287
Ensembl chrNW_004955472:467,492...488,892 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:28,897,328...28,900,289 JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:3,073,090...3,076,607 JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:611,079...617,823
Ensembl chrNW_004955472:611,028...617,821 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:28,693,509...28,720,006
Ensembl chrNW_004955419:28,693,821...28,713,349 		JBrowse link
G Ubap1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,860,476...1,903,478
Ensembl chrNW_004955472:1,860,476...1,903,478 		JBrowse link
G Ubap2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:2,044,397...2,100,904
Ensembl chrNW_004955472:2,020,232...2,100,155 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:29,000,070...29,032,446
Ensembl chrNW_004955419:29,001,265...29,032,446 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chrNW_004955419:29,108,905...29,339,602
Ensembl chrNW_004955419:29,108,644...29,334,670 		JBrowse link
galactosemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: GALM-related condition | ClinVar Annotator: match by term: Galactosemia 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30451973 PMID:30910422 NCBI chrNW_004955441:6,330,520...6,399,522
Ensembl chrNW_004955441:6,330,410...6,403,219 		JBrowse link
Gaucher's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chit1 chitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:28492532 NCBI chrNW_004955419:18,035,197...18,097,681
Ensembl chrNW_004955419:18,038,507...18,095,894 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis ClinVar PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Acid beta-glucosidase deficiency ClinVar PMID:22493294 NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Kerasin thesaurismosis ClinVar PMID:11133365 PMID:25614874 PMID:28492532 PMID:36833258 NCBI chrNW_004955578:852,789...873,319
Ensembl chrNW_004955578:868,534...874,168 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: GBA DEFICIENCY ClinVar PMID:25741868 NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
Gaucher's disease perinatal lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal ClinVar
OMIM		 PMID:1333717 PMID:1348297 PMID:1704891 PMID:1864608 PMID:1897529 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
Gaucher's disease type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Gaucher disease type I | ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile ClinVar
OMIM		 PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile ClinVar PMID:22493294 NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Gaucher disease type I ClinVar PMID:25741868 NCBI chrNW_004955545:1,664,372...1,675,810
Ensembl chrNW_004955545:1,664,372...1,675,810 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: GD I ClinVar PMID:25741868 NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
Gaucher's disease type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type OMIM
ClinVar		 PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1558964 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Acute cerebral Gaucher disease ClinVar PMID:11133365 PMID:25614874 PMID:28492532 PMID:36833258 NCBI chrNW_004955578:852,789...873,319
Ensembl chrNW_004955578:868,534...874,168 		JBrowse link
Gaucher's disease type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Gaucher Disease, Type 3 | ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type OMIM
ClinVar		 PMID:1301953 PMID:1333717 PMID:1348297 PMID:1704891 PMID:1840477 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
Gaucher's disease type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease type 3C | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome OMIM
ClinVar		 PMID:1333717 PMID:1348297 PMID:1704891 PMID:1864608 PMID:1897529 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
glycine encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase susceptibility ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia RGD
ClinVar		 PMID:3769993 PMID:4434100 PMID:6179960 PMID:8005589 PMID:9536098 More... RGD:1599106 NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220 		JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:9536098 PMID:12402263 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955522:3,858,156...3,869,730
Ensembl chrNW_004955522:3,857,628...3,870,228 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:660 PMID:80128 PMID:445864 PMID:1634607 PMID:1996985 More... NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chrNW_004955434:10,646,524...11,000,589
Ensembl chrNW_004955434:10,685,704...11,000,644 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:8005589 PMID:9536098 PMID:9621520 PMID:16199547 PMID:16450403 More... NCBI chrNW_004955532:1,358,251...1,363,481
Ensembl chrNW_004955532:1,358,251...1,363,470 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451 		JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISO OMIM:605899 MouseDO NCBI chrNW_004955537:3,520,516...3,549,492
Ensembl chrNW_004955537:3,520,516...3,550,022 		JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chrNW_004955532:1,347,639...1,349,864
Ensembl chrNW_004955532:1,347,639...1,349,864 		JBrowse link
glycine encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Glycine encephalopathy 1 ClinVar PMID:3769993 PMID:6179960 PMID:8005589 PMID:9600239 PMID:10873393 More... NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Glycine encephalopathy 1 OMIM
ClinVar		 PMID:445864 PMID:1634607 PMID:1996985 PMID:9536098 PMID:10798358 More... NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Glycine encephalopathy 1 ClinVar PMID:16450403 PMID:19299230 PMID:25741868 PMID:27362913 PMID:28492532 More... NCBI chrNW_004955532:1,358,251...1,363,481
Ensembl chrNW_004955532:1,358,251...1,363,470 		JBrowse link
glycine encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Glycine encephalopathy 2 OMIM
ClinVar		 PMID:3769993 PMID:4434100 PMID:8005589 PMID:9580775 PMID:9600239 More... NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Glycine encephalopathy 2 ClinVar PMID:9621520 PMID:16450403 PMID:25741868 PMID:28492532 NCBI chrNW_004955532:1,358,251...1,363,481
Ensembl chrNW_004955532:1,358,251...1,363,470 		JBrowse link
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23265383 PMID:25741868 More... NCBI chrNW_004955537:3,520,516...3,549,492
Ensembl chrNW_004955537:3,520,516...3,550,022 		JBrowse link
glycogen storage disease II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955506:2,783,837...2,840,248
Ensembl chrNW_004955506:2,784,548...2,838,026 		JBrowse link
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:28492532 NCBI chrNW_004955506:2,749,534...2,760,873
Ensembl chrNW_004955506:2,749,534...2,760,873 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Alpha-1,4-glucosidase deficiency | ClinVar Annotator: match by term: Glycogen storage disease type 2 | ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II
ClinVar Annotator: match by term: Alpha-1,4-glucosidase deficiency | ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II
ClinVar Annotator: match by term: ACID ALPHA-GLUCOSIDASE DEFICIENCY | ClinVar Annotator: match by term: Glycogen storage disease type 2 | ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II		 ClinVar
OMIM		 PMID:1109266 PMID:1652892 PMID:1856189 PMID:1862843 PMID:1895140 More... NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:15016963 PMID:21266528 PMID:23334666 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639 		JBrowse link
glycoproteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 More... NCBI chrNW_004955405:37,081,024...37,093,798 JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy		 ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC/variant pseudo-hurler polydystrophy RGD PMID:10712439 RGD:1599045 NCBI chrNW_004955442:15,870,409...15,881,552
Ensembl chrNW_004955442:15,870,619...15,881,511 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chrNW_004955563:1,703,408...1,712,908
Ensembl chrNW_004955563:1,703,416...1,745,996 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis		 ClinVar PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chrNW_004955437:378,708...383,076
Ensembl chrNW_004955437:378,708...383,085 		JBrowse link
G Sgcb sarcoglycan beta ISO ClinVar Annotator: match by term: Sialidosis ClinVar PMID:9032047 PMID:28492532 PMID:33250842 NCBI chrNW_004955447:18,459,562...18,472,367
Ensembl chrNW_004955447:18,459,562...18,469,324 		JBrowse link
GM1 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: GLB1 deficiency ClinVar PMID:11920643 PMID:12097257 PMID:15340362 PMID:16683254 PMID:18489799 More... NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432 		JBrowse link
G Glb1 galactosidase beta 1 treatment ISO ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: Beta-galactosidase deficiency | ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GLB1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GM1 gangliosidosis		 RGD
ClinVar		 PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... RGD:11086251 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GM1 gangliosidosis ClinVar PMID:16941474 PMID:25741868 PMID:28492532 NCBI chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: GLB1 deficiency ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610 		JBrowse link
GM1 gangliosidosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form ClinVar PMID:11920643 PMID:12097257 PMID:15340362 PMID:16683254 PMID:18489799 More... NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967 		JBrowse link
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 1 | ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis		 OMIM
ClinVar		 PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Infantile GM1 gangliosidosis ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610 		JBrowse link
GM1 gangliosidosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2 OMIM
ClinVar		 PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581 		JBrowse link
GM1 gangliosidosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis OMIM
ClinVar		 PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 More... NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 More... NCBI chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581 		JBrowse link
GM2 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chrNW_004955408:2,442,406...2,449,426
Ensembl chrNW_004955408:2,442,406...2,449,426 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 More... NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		JBrowse link
G Sncb synuclein beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095 		JBrowse link
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB OMIM
ClinVar		 PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 More... NCBI chrNW_004955408:2,442,406...2,449,426
Ensembl chrNW_004955408:2,442,406...2,449,426 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 More... NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:28492532 NCBI chrNW_004955408:2,363,416...2,392,210
Ensembl chrNW_004955408:2,363,418...2,393,904 		JBrowse link
G Slc36a3 solute carrier family 36 member 3 ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:28492532 NCBI chrNW_004955408:2,395,045...2,423,797
Ensembl chrNW_004955408:2,400,608...2,423,155 		JBrowse link
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: GM2-gangliosidosis, adult-onset | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult ClinVar PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 More... NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 ClinVar PMID:1532289 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
Hartnup disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect | ClinVar Annotator: match by term: SLC6A19-related condition OMIM
ClinVar		 PMID:9536098 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 More... NCBI chrNW_004955504:617,683...633,594
Ensembl chrNW_004955504:616,768...633,654 		JBrowse link
hawkinsinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Hawkinsinuria OMIM
ClinVar		 PMID:858207 PMID:1130176 PMID:1519651 PMID:9536098 PMID:10942115 More... NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034 		JBrowse link
homocarnosinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cndp1 carnosine dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4172777 NCBI chrNW_004955402:57,970,205...58,019,980
Ensembl chrNW_004955402:57,970,161...58,019,479 		JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,410,262...39,459,383
Ensembl chrNW_004955407:39,410,262...39,459,383 		JBrowse link
G Adarb1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,886,286...41,962,846
Ensembl chrNW_004955407:41,886,286...41,962,897 		JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,365,920...41,434,090
Ensembl chrNW_004955407:41,365,887...41,434,090 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,157,503...41,165,032
Ensembl chrNW_004955407:41,157,484...41,165,014 		JBrowse link
G C2cd2 C2 calcium dependent domain containing 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,627,435...39,665,156
Ensembl chrNW_004955407:39,618,252...39,663,885 		JBrowse link
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: CBS-related condition | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive		 OMIM
ClinVar		 PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,120,820...41,128,089
Ensembl chrNW_004955407:41,121,048...41,126,996 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,091,211...42,131,343
Ensembl chrNW_004955407:42,091,211...42,131,343 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,461,837...42,479,048
Ensembl chrNW_004955407:42,461,952...42,478,261 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,575,677...42,600,967
Ensembl chrNW_004955407:42,575,170...42,600,495 		JBrowse link
G Cryaa crystallin alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:38,880,088...38,892,946
Ensembl chrNW_004955407:38,880,086...38,925,642 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150 		JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,712,152...42,728,690 JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,177,582...41,186,965
Ensembl chrNW_004955407:41,177,582...41,186,965 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,608,249...42,617,167
Ensembl chrNW_004955407:42,607,872...42,617,166 		JBrowse link
G Gatd3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,247,749...41,255,369
Ensembl chrNW_004955407:41,247,687...41,254,884 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:38,577,463...38,671,929
Ensembl chrNW_004955407:38,577,789...38,671,929 		JBrowse link
G Icoslg inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,190,875...41,197,521
Ensembl chrNW_004955407:41,189,974...41,198,254 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,779,849...41,805,637
Ensembl chrNW_004955407:41,777,777...41,800,201 		JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,053,671...41,056,103
Ensembl chrNW_004955407:41,052,184...41,092,196 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399 		JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,657,422...42,706,339
Ensembl chrNW_004955407:42,657,588...42,705,315 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chrNW_004955464:12,774,018...12,780,612
Ensembl chrNW_004955464:12,772,420...12,780,612 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria ClinVar PMID:10484769 PMID:15714522 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645 		JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,029,943...39,039,425
Ensembl chrNW_004955407:39,026,057...39,039,347 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,395,149...42,447,312
Ensembl chrNW_004955407:42,377,972...42,446,722 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,735,078...42,835,851
Ensembl chrNW_004955407:42,735,188...42,835,465 		JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,090,718...39,165,363
Ensembl chrNW_004955407:39,087,952...39,165,370 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,131,022...41,145,392
Ensembl chrNW_004955407:41,131,022...41,145,394 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chrNW_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301 		JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:38,949,060...38,982,984
Ensembl chrNW_004955407:38,948,200...38,982,984 		JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,972,833...41,984,095
Ensembl chrNW_004955407:41,972,717...41,984,095 		JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,680,757...39,714,917
Ensembl chrNW_004955407:39,680,770...39,712,104 		JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,753,855...41,769,107
Ensembl chrNW_004955407:41,755,162...41,769,010 		JBrowse link
G Pwp2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,256,603...41,269,648
Ensembl chrNW_004955407:41,256,855...41,269,582 		JBrowse link
G Ripk4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,728,645...39,748,752
Ensembl chrNW_004955407:39,728,634...39,748,791 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,456,291...41,466,040
Ensembl chrNW_004955407:41,456,191...41,466,856 		JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:38,553,866...38,577,547
Ensembl chrNW_004955407:38,553,814...38,577,465 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,266,888...39,284,972
Ensembl chrNW_004955407:39,266,888...39,284,972 		JBrowse link
G Sik1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:38,739,062...38,749,293
Ensembl chrNW_004955407:38,739,062...38,749,758 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,132,216...42,154,252
Ensembl chrNW_004955407:42,132,165...42,141,992 		JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,203,934...39,268,273
Ensembl chrNW_004955407:39,203,942...39,268,273 		JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,812,808...41,834,661
Ensembl chrNW_004955407:41,812,825...41,833,020 		JBrowse link
G Spatc1l spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,621,167...42,629,350
Ensembl chrNW_004955407:42,620,679...42,629,350 		JBrowse link
G Sumo3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,725,992...41,732,692
Ensembl chrNW_004955407:41,727,181...41,732,692 		JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,363,693...39,365,724 JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,379,669...39,382,367
Ensembl chrNW_004955407:39,379,526...39,382,420 		JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,398,534...39,401,085
Ensembl chrNW_004955407:39,398,074...39,401,248 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,332,517...39,351,699
Ensembl chrNW_004955407:39,332,052...39,354,488 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,271,526...41,347,850
Ensembl chrNW_004955407:41,271,526...41,347,850 		JBrowse link
G Trpm2 transient receptor potential cation channel subfamily M member 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,062,217...41,110,500
Ensembl chrNW_004955407:41,057,941...41,110,668 		JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,513,538...41,566,931
Ensembl chrNW_004955407:41,513,829...41,656,564 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:38,895,741...38,909,820
Ensembl chrNW_004955407:38,895,711...38,909,820 		JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,290,025...39,325,810
Ensembl chrNW_004955407:39,290,827...39,326,004 		JBrowse link
G Ube2g2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:41,683,771...41,724,014
Ensembl chrNW_004955407:41,683,720...41,724,014 		JBrowse link
G Umodl1 uromodulin like 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,508,526...39,555,604
Ensembl chrNW_004955407:39,508,471...39,548,147 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277 		JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:42,706,407...42,710,962
Ensembl chrNW_004955407:42,706,439...42,710,962 		JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chrNW_004955407:39,583,998...39,599,381
Ensembl chrNW_004955407:39,584,146...39,599,381 		JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790 		JBrowse link
Homocystinuria-megaloblastic anemia cblD type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE OMIM
ClinVar		 PMID:15292234 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chrNW_004955440:15,317,877...15,338,139
Ensembl chrNW_004955440:15,316,822...15,337,688 		JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE ClinVar
OMIM		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645 		JBrowse link
homocystinuria-megaloblastic anemia cblG type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:25741868 NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645 		JBrowse link
hyperargininemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 susceptibility ISO ClinVar Annotator: match by term: Arginase deficiency OMIM
ClinVar
RGD		 PMID:480013 PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 More... RGD:1599208 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27056296 NCBI chrNW_004955414:28,652,663...28,748,360
Ensembl chrNW_004955414:28,684,226...28,748,360 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chrNW_004955436:12,416,147...12,477,214
Ensembl chrNW_004955436:12,415,737...12,480,359 		JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chrNW_004955436:12,310,773...12,384,815
Ensembl chrNW_004955436:12,310,765...12,385,197 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 PMID:7649538 More... NCBI chrNW_004955436:12,249,995...12,293,812
Ensembl chrNW_004955436:12,249,995...12,293,813 		JBrowse link
hyperlysinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Hyperlysinemia OMIM
ClinVar		 PMID:934735 PMID:10775527 PMID:23570448 PMID:23890588 PMID:25741868 More... NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338 		JBrowse link
Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pts 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency ClinVar PMID:7493990 PMID:8178819 PMID:10220141 PMID:22237589 PMID:25741868 More... NCBI chrNW_004955412:13,880,937...13,888,562
Ensembl chrNW_004955412:13,880,937...13,888,562 		JBrowse link
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO ClinVar Annotator: match by term: DNAJC12-related condition | ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient OMIM
ClinVar		 PMID:9159748 PMID:25741868 PMID:28132689 PMID:28492532 PMID:28794131 More... NCBI chrNW_004955425:20,202,264...20,236,416
Ensembl chrNW_004955425:20,200,239...20,236,408 		JBrowse link
Hyperphenylalaninemia, Non-Pku Mild term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD ClinVar PMID:1301200 PMID:8364546 PMID:9450897 PMID:9634518 PMID:10234516 More... NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457 		JBrowse link
hypomyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428 		JBrowse link
G Alms1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chrNW_004955424:12,130,496...12,258,684
Ensembl chrNW_004955424:12,130,607...12,258,522 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chrNW_004955420:23,313,405...23,322,748
Ensembl chrNW_004955420:23,309,378...23,322,698 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chrNW_004955484:1,924,523...1,939,777
Ensembl chrNW_004955484:1,924,523...1,940,552 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 More... NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177 		JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 ClinVar
OMIM		 PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 PMID:28492532 More... NCBI chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112 		JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 | ClinVar Annotator: match by term: POLR1C-related disorder OMIM
ClinVar		 PMID:610060 PMID:9536098 PMID:11013442 PMID:17576681 PMID:21131976 More... NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591 		JBrowse link
G Xpo5 exportin 5 ISO ClinVar Annotator: match by term: POLR1C-related disorder ClinVar NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396 		JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141 		JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hikeshi heat shock protein nuclear import factor hikeshi ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 OMIM
ClinVar		 PMID:25741868 PMID:26545878 PMID:28492532 PMID:31912665 PMID:34111619 More... NCBI chrNW_004955414:6,632,434...6,656,633
Ensembl chrNW_004955414:6,628,216...6,656,633 		JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufm1 ubiquitin fold modifier 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 | ClinVar Annotator: match by term: UFM1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28931644 PMID:29868776 PMID:32860008 NCBI chrNW_004955431:7,860,706...7,872,972
Ensembl chrNW_004955431:7,860,706...7,872,972 		JBrowse link
hypomyelinating leukodystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: EPRS1-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29576217 More... NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697 		JBrowse link
hypomyelinating leukodystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem106b transmembrane protein 106B ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 | ClinVar Annotator: match by term: TMEM106B-related condition ClinVar
OMIM		 PMID:10338095 PMID:10737981 PMID:16941474 PMID:17309651 PMID:25741868 More... NCBI chrNW_004955432:18,619,418...18,644,876
Ensembl chrNW_004955432:18,619,413...18,639,151 		JBrowse link
hypomyelinating leukodystrophy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO ClinVar Annotator: match by term: AIMP2-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29215095 NCBI chrNW_004955460:13,754,487...13,762,726
Ensembl chrNW_004955460:13,754,487...13,762,726 		JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: AIMP2-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955460:13,723,674...13,754,545
Ensembl chrNW_004955460:13,723,777...13,754,150 		JBrowse link
hypomyelinating leukodystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Degs1 delta 4-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: DEGS1-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chrNW_004955520:1,139,568...1,143,149
Ensembl chrNW_004955520:1,135,563...1,143,192 		JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:8900227 PMID:10699052 PMID:11854167 PMID:15505393 PMID:16602100 More... NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615 		JBrowse link
G Gjc2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 | ClinVar Annotator: match by term: PELIZAEUS-MERZBACHER-LIKE DISEASE, 1 OMIM
ClinVar		 PMID:2368670 PMID:8733901 PMID:15192806 PMID:16707726 PMID:16969684 More... NCBI chrNW_004955581:291,537...294,752 JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665 		JBrowse link
hypomyelinating leukodystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: CNP-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 OMIM
ClinVar		 PMID:25741868 PMID:32128616 NCBI chrNW_004955451:16,115,137...16,119,261
Ensembl chrNW_004955451:16,114,454...16,118,622 		JBrowse link
hypomyelinating leukodystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3k RNA polymerase III subunit K ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 OMIM
ClinVar		 PMID:25741868 PMID:30584594 NCBI chrNW_004955442:17,101,585...17,106,689
Ensembl chrNW_004955442:17,101,585...17,106,689 		JBrowse link
hypomyelinating leukodystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 OMIM
ClinVar		 PMID:25741868 PMID:33313762 NCBI chrNW_004955420:580,588...595,052
Ensembl chrNW_004955420:580,588...595,116 		JBrowse link
hypomyelinating leukodystrophy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy OMIM
ClinVar		 PMID:10881263 PMID:25741868 PMID:33964137 PMID:36083980 NCBI chrNW_004955464:13,579,828...13,795,266
Ensembl chrNW_004955464:13,580,742...13,801,837 		JBrowse link
hypomyelinating leukodystrophy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 OMIM
ClinVar		 PMID:34403372 NCBI chrNW_004955404:820,788...906,531
Ensembl chrNW_004955404:820,263...912,351 		JBrowse link
hypomyelinating leukodystrophy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem163 transmembrane protein 163 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 OMIM
ClinVar		 PMID:25741868 PMID:35455965 PMID:35953447 NCBI chrNW_004955440:2,006,152...2,240,209
Ensembl chrNW_004955440:2,007,097...2,240,275 		JBrowse link
hypomyelinating leukodystrophy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia ClinVar PMID:35325049 NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia OMIM
ClinVar		 PMID:25741868 PMID:35325049 NCBI chrNW_004955437:9,878,592...9,882,431
Ensembl chrNW_004955437:9,878,592...9,882,431 		JBrowse link
Hypomyelinating Leukodystrophy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO OMIM NCBI chrNW_004955424:1,507,935...1,595,068
Ensembl chrNW_004955424:1,508,037...1,593,108 		JBrowse link
Hypomyelinating Leukodystrophy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mal mal, T cell differentiation protein ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 28 OMIM
ClinVar		 PMID:35217805 NCBI chrNW_004955470:3,372,577...3,396,868
Ensembl chrNW_004955470:3,372,577...3,398,836 		JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 ISO ClinVar Annotator: match by term: AIMP1-related condition | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 OMIM
ClinVar		 PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 More... NCBI chrNW_004955496:3,073,480...3,108,012
Ensembl chrNW_004955496:3,072,341...3,108,672 		JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: HSPD1-related condition | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 OMIM
ClinVar		 PMID:18414213 PMID:18571143 PMID:22552817 PMID:24033266 PMID:25326637 More... NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 ClinVar PMID:29389947 NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336 		JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chrNW_004955410:24,353,024...24,366,987
Ensembl chrNW_004955410:24,353,128...24,366,987 		JBrowse link
G Dnah11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chrNW_004955410:24,045,333...24,352,626
Ensembl chrNW_004955410:24,044,886...24,352,626 		JBrowse link
G Hycc1 hyccin PI4KA lipid kinase complex subunit 1 ISO ClinVar Annotator: match by term: HYCC1-related condition | ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16951682 PMID:17576681 PMID:17683097 More... NCBI chrNW_004955410:25,274,360...25,342,112
Ensembl chrNW_004955410:25,227,280...25,342,106 		JBrowse link
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chrNW_004955410:24,525,748...24,716,151
Ensembl chrNW_004955410:24,525,748...24,716,372 		JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chrNW_004955410:23,955,408...24,015,667
Ensembl chrNW_004955410:23,955,408...24,015,667 		JBrowse link
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chrNW_004955410:25,157,860...25,166,898
Ensembl chrNW_004955410:25,157,860...25,166,898 		JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM OMIM
ClinVar		 PMID:2358646 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 More... NCBI chrNW_004955495:3,134,181...3,138,725
Ensembl chrNW_004955495:3,133,429...3,139,552 		JBrowse link
hypomyelinating leukodystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More... NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173 		JBrowse link
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ClinVar PMID:24039609 PMID:25326637 NCBI chrNW_004955424:2,082,480...2,107,599
Ensembl chrNW_004955424:2,083,085...2,106,664 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: POLR3-related leukodystrophy ClinVar PMID:16505055 PMID:17724218 PMID:21153841 PMID:23035049 PMID:25741868 More... NCBI chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: POLR3A-related condition OMIM
ClinVar		 PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:16199547 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 More... NCBI chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chrNW_004955437:14,435,822...14,442,662
Ensembl chrNW_004955437:14,434,771...14,443,106 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome ClinVar PMID:25326637 PMID:25741868 PMID:27104957 PMID:28492532 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748 		JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004955464:12,927,669...12,936,894
Ensembl chrNW_004955464:12,933,497...12,938,468 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More... NCBI chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058 		JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 | ClinVar Annotator: match by term: RARS1-related condition OMIM
ClinVar		 PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 More... NCBI chrNW_004955408:21,536,426...21,574,683 JBrowse link
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: DARS1-related condition | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity OMIM
ClinVar		 PMID:23643384 PMID:25527264 PMID:25741868 PMID:27816769 PMID:28492532 NCBI chrNW_004955440:3,268,648...3,345,808
Ensembl chrNW_004955440:3,266,821...3,345,808 		JBrowse link
infantile Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc10 ATP binding cassette subfamily C member 10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,278,977...9,297,618
Ensembl chrNW_004955437:9,280,050...9,297,314 		JBrowse link
G Bicral BICRA like chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,841,830...8,896,391
Ensembl chrNW_004955437:8,854,563...8,897,684 		JBrowse link
G Bysl bystin like ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,257,081...8,266,627
Ensembl chrNW_004955437:8,257,081...8,266,875 		JBrowse link
G Ccnd3 cyclin D3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,266,523...8,273,855
Ensembl chrNW_004955437:8,268,118...8,273,855 		JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,930,883...8,939,869
Ensembl chrNW_004955437:8,930,885...8,939,869 		JBrowse link
G Creb3l1 cAMP responsive element binding protein 3 like 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:1,702,131...1,734,603
Ensembl chrNW_004955422:1,700,692...1,734,773 		JBrowse link
G Crip3 cysteine rich protein 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,210,901...9,215,471
Ensembl chrNW_004955437:9,210,901...9,215,471 		JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,084,020...2,114,980
Ensembl chrNW_004955422:2,083,138...2,115,072 		JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,003,482...9,018,260
Ensembl chrNW_004955437:9,003,533...9,017,281 		JBrowse link
G Cul9 cullin 9 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,109,997...9,145,181
Ensembl chrNW_004955437:9,109,889...9,147,526 		JBrowse link
G CUNH6orf132 chromosome unknown C6orf132 homolog ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,337,580...8,362,873
Ensembl chrNW_004955437:8,337,919...8,362,699 		JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:1,658,237...1,687,000
Ensembl chrNW_004955422:1,657,926...1,695,404 		JBrowse link
G Dlk2 delta like non-canonical Notch ligand 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,297,557...9,302,581
Ensembl chrNW_004955437:9,297,557...9,302,996 		JBrowse link
G Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,145,737...9,147,388
Ensembl chrNW_004955437:9,145,737...9,147,387 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,029,346...8,056,243
Ensembl chrNW_004955437:8,014,939...8,057,033 		JBrowse link
G Frey1 Frey regulator of sperm-oocyte fusion 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,063,253...2,063,942 JBrowse link
G Frs3 fibroblast growth factor receptor substrate 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,166,724...8,182,551
Ensembl chrNW_004955437:8,166,140...8,175,324 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004955432:9,389,020...9,398,791 JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:26669662 PMID:27779215 More... NCBI chrNW_004955437:8,944,288...8,946,642
Ensembl chrNW_004955437:8,944,047...8,946,642 		JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,414,128...9,425,671
Ensembl chrNW_004955437:9,412,934...9,424,365 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,370,553...8,382,640
Ensembl chrNW_004955437:8,376,091...8,382,640 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,384,692...8,390,946
Ensembl chrNW_004955437:8,382,299...8,390,946 		JBrowse link
G Klc4 kinesin light chain 4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,022,873...9,036,026
Ensembl chrNW_004955437:9,023,024...9,037,238 		JBrowse link
G Klhdc3 kelch domain containing 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,989,671...8,995,845
Ensembl chrNW_004955437:8,989,671...8,995,845 		JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,045,986...2,052,086
Ensembl chrNW_004955422:2,045,986...2,050,863 		JBrowse link
G Lrrc73 leucine rich repeat containing 73 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,337,538...9,340,360
Ensembl chrNW_004955437:9,337,538...9,340,360 		JBrowse link
G Mad2l1bp MAD2L1 binding protein ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,423,630...9,433,357 JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,064,010...2,081,681
Ensembl chrNW_004955422:2,061,851...2,082,514 		JBrowse link
G Mdfi MyoD family inhibitor ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,071,054...8,081,811
Ensembl chrNW_004955437:8,069,326...8,081,866 		JBrowse link
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,987,567...8,989,616
Ensembl chrNW_004955437:8,987,567...8,989,476 		JBrowse link
G Med20 mediator complex subunit 20 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,246,335...8,256,987
Ensembl chrNW_004955437:8,246,335...8,256,986 		JBrowse link
G Mrpl2 mitochondrial ribosomal protein L2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,018,491...9,022,998
Ensembl chrNW_004955437:9,017,939...9,022,760 		JBrowse link
G Mrps10 mitochondrial ribosomal protein S10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,399,233...8,407,525
Ensembl chrNW_004955437:8,398,812...8,407,531 		JBrowse link
G Mrps18a mitochondrial ribosomal protein S18A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,448,612...9,462,874
Ensembl chrNW_004955437:9,448,612...9,462,874 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B		 ClinVar PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chrNW_004955432:9,418,480...9,461,507
Ensembl chrNW_004955432:9,418,678...9,461,419 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 More... NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar NCBI chrNW_004955568:174,770...183,078
Ensembl chrNW_004955568:174,770...183,624 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 More... NCBI chrNW_004955481:10,057,494...10,060,492
Ensembl chrNW_004955481:10,057,494...10,063,935 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9480815 PMID:10332040 PMID:10441568 PMID:16006427 PMID:21031596 More... NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)		 ClinVar PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955422:2,054,867...2,060,871
Ensembl chrNW_004955422:2,055,446...2,061,729 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) ClinVar PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chrNW_004955444:3,811,972...3,830,666
Ensembl chrNW_004955444:3,811,973...3,830,666 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 More... NCBI chrNW_004955454:6,097,251...6,115,430 JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:10942428 PMID:21031596 PMID:28492532 NCBI chrNW_004955436:16,918,259...16,956,242
Ensembl chrNW_004955436:16,917,008...16,956,242 		JBrowse link
G Pex39 peroxisomal biogenesis factor 39 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,912,183...8,912,733 JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:10462504 PMID:17532062 PMID:20681997 PMID:28492532 PMID:30561787 More... NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile Refsum's disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)		 ClinVar PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chrNW_004955437:8,945,842...8,964,870
Ensembl chrNW_004955437:8,947,002...8,960,371 		JBrowse link
G Pgc progastricsin ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,142,523...8,153,044
Ensembl chrNW_004955437:8,142,661...8,151,339 		JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:1,857,335...2,045,816
Ensembl chrNW_004955422:1,857,335...2,045,816 		JBrowse link
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,392,484...9,409,186
Ensembl chrNW_004955437:9,397,141...9,414,042 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591 		JBrowse link
G Ppp2r5d protein phosphatase 2 regulatory subunit B'delta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,968,517...8,987,680
Ensembl chrNW_004955437:8,968,565...8,986,654 		JBrowse link
G Prickle4 prickle planar cell polarity protein 4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,177,451...8,182,992
Ensembl chrNW_004955437:8,179,554...8,182,790 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,784,211...8,794,789
Ensembl chrNW_004955437:8,782,183...8,795,017 		JBrowse link
G Ptcra pre T cell antigen receptor alpha ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,920,997...8,927,354 JBrowse link
G Ptk7 protein tyrosine kinase 7 (inactive) ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,037,933...9,094,237
Ensembl chrNW_004955437:9,037,661...9,094,287 		JBrowse link
G Rpl7l1 ribosomal protein L7 like 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,903,274...8,916,598
Ensembl chrNW_004955437:8,903,274...8,908,717 		JBrowse link
G Rrp36 ribosomal RNA processing 36 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,995,983...9,001,517
Ensembl chrNW_004955437:8,996,203...9,001,163 		JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,437,281...9,448,514
Ensembl chrNW_004955437:9,437,281...9,448,514 		JBrowse link
G Slc22a7 solute carrier family 22 member 7 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,204,414...9,210,350
Ensembl chrNW_004955437:9,204,322...9,210,086 		JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,130,561...2,139,145
Ensembl chrNW_004955422:2,130,453...2,139,145 		JBrowse link
G Srf serum response factor ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,100,546...9,109,305
Ensembl chrNW_004955437:9,098,968...9,107,057 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,317,437...8,328,544
Ensembl chrNW_004955437:8,317,437...8,328,804 		JBrowse link
G Tbcc tubulin folding cofactor C ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,808,021...8,809,598 JBrowse link
G Tfeb transcription factor EB ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,102,241...8,141,001
Ensembl chrNW_004955437:8,098,976...8,141,001 		JBrowse link
G Tjap1 tight junction associated protein 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,314,472...9,337,021
Ensembl chrNW_004955437:9,314,416...9,336,420 		JBrowse link
G Tomm6 translocase of outer mitochondrial membrane 6 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,183,219...8,184,602
Ensembl chrNW_004955437:8,183,219...8,184,602 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:7,780,886...7,785,597
Ensembl chrNW_004955437:7,780,679...7,785,697 		JBrowse link
G Treml2 triggering receptor expressed on myeloid cells like 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:7,812,005...7,824,344 JBrowse link
G Treml4 triggering receptor expressed on myeloid cells like 4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:7,827,329...7,846,406 JBrowse link
G Trerf1 transcriptional regulating factor 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,411,951...8,600,283
Ensembl chrNW_004955437:8,413,408...8,451,256 		JBrowse link
G Ttbk1 tau tubulin kinase 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,161,880...9,195,098
Ensembl chrNW_004955437:9,165,414...9,197,612 		JBrowse link
G Ubr2 ubiquitin protein ligase E3 component n-recognin 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,678,212...8,780,700
Ensembl chrNW_004955437:8,677,801...8,782,120 		JBrowse link
G Usp49 ubiquitin specific peptidase 49 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,187,118...8,237,910
Ensembl chrNW_004955437:8,191,236...8,198,809 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Xpo5 exportin 5 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396 		JBrowse link
G Yipf3 Yip1 domain family member 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,342,030...9,346,315
Ensembl chrNW_004955437:9,342,030...9,346,315 		JBrowse link
G Znf318 zinc finger protein 318 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,221,417...9,259,021
Ensembl chrNW_004955437:9,229,069...9,259,021 		JBrowse link
Infantile Sialic Storage Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Infantile sialic acid storage disorder (ISSD) | ClinVar Annotator: match by term: N-Acetylneuraminic acid storage disease | ClinVar Annotator: match by term: NANA STORAGE DISEASE OMIM
ClinVar		 PMID:2010546 PMID:2334213 PMID:7151835 PMID:7573152 PMID:10069709 More... NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Presenile dementia with spastic ataxia OMIM
ClinVar		 PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chrNW_004955431:1,928,706...1,935,010
Ensembl chrNW_004955431:1,928,706...1,937,238 		JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency		 ClinVar
OMIM		 PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:25741868 NCBI chrNW_004955438:11,033,089...11,069,178
Ensembl chrNW_004955438:11,033,998...11,069,128 		JBrowse link
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmac2l distal membrane arm assembly component 2 like ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955409:12,473,891...12,485,066
Ensembl chrNW_004955409:12,474,063...12,484,984 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition OMIM
ClinVar		 PMID:9536098 PMID:15385440 PMID:15548604 PMID:16134148 PMID:16199547 More... NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098 		JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chrNW_004955409:12,542,353...12,622,165
Ensembl chrNW_004955409:12,542,401...12,620,971 		JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chrNW_004955409:12,622,259...12,632,246
Ensembl chrNW_004955409:12,622,259...12,632,246 		JBrowse link
Leigh disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,035,879...5,051,140
Ensembl chrNW_004955513:5,033,771...5,051,200 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,761,386...2,786,447
Ensembl chrNW_004955513:2,764,186...2,786,187 		JBrowse link
G Adamtsl2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,849,310...2,879,130
Ensembl chrNW_004955513:2,849,271...2,879,848 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,142,074...4,145,097
Ensembl chrNW_004955513:4,135,460...4,149,677 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,924,344...4,930,850
Ensembl chrNW_004955513:4,924,620...4,930,850 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,069,187...2,185,469
Ensembl chrNW_004955513:2,065,004...2,185,404 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955541:2,921,230...3,033,612
Ensembl chrNW_004955541:2,919,631...2,961,445 		JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:35621276 NCBI chrNW_004955407:33,288,194...33,298,817
Ensembl chrNW_004955407:33,286,178...33,299,420 		JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:1,955,906...1,970,110
Ensembl chrNW_004955513:1,959,634...1,966,247 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:3,145,267...3,164,791
Ensembl chrNW_004955513:3,145,288...3,174,370 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,787,098...2,796,132
Ensembl chrNW_004955513:2,787,099...2,796,132 		JBrowse link
G Camsap1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,649,816...4,704,282
Ensembl chrNW_004955513:4,667,292...4,705,910 		JBrowse link
G Card9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,350,873...4,359,345
Ensembl chrNW_004955513:4,350,147...4,359,345 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,897,359...4,904,559
Ensembl chrNW_004955513:4,897,359...4,904,559 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,324,025...2,382,877 JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:1,834,654...1,951,827
Ensembl chrNW_004955513:1,834,388...1,953,638 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,020,105...5,022,000
Ensembl chrNW_004955513:5,020,144...5,021,936 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:3,533,612...3,660,605
Ensembl chrNW_004955513:3,533,614...3,658,161 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062 		JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955507:5,617,595...5,664,131
Ensembl chrNW_004955507:5,617,598...5,657,848 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247 		JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:1,970,386...2,036,572
Ensembl chrNW_004955513:1,970,830...2,031,908 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,120,061...4,123,964
Ensembl chrNW_004955513:4,120,061...4,123,971 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,359,421...4,361,081
Ensembl chrNW_004955513:4,359,421...4,361,081 		JBrowse link
G Dpp7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,105,833...5,109,676
Ensembl chrNW_004955513:5,106,430...5,109,483 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25393721 PMID:25741868 PMID:28492532 PMID:32677908 PMID:33139125 More... NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486 		JBrowse link
G Edf1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,942,268...4,945,645
Ensembl chrNW_004955513:4,942,268...4,946,000 		JBrowse link
G Egfl7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,145,059...4,154,918
Ensembl chrNW_004955513:4,142,108...4,151,421 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28777931 NCBI chrNW_004955442:15,492,925...15,496,639
Ensembl chrNW_004955442:15,493,911...15,496,620 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,070,050...5,075,098
Ensembl chrNW_004955513:5,068,875...5,075,098 		JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chrNW_004955507:5,552,788...5,594,911
Ensembl chrNW_004955507:5,552,764...5,594,911 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,322,002...4,329,479
Ensembl chrNW_004955513:4,322,871...4,330,012 		JBrowse link
G Fam163b family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,880,253...2,903,575
Ensembl chrNW_004955513:2,880,253...2,903,575 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:31944455 NCBI chrNW_004955457:8,191,861...8,213,003
Ensembl chrNW_004955457:8,189,558...8,211,832 		JBrowse link
G Fbxl4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:23993194 PMID:25558065 PMID:25741868 PMID:25868664 PMID:27743463 More... NCBI chrNW_004955411:24,757,445...24,814,642
Ensembl chrNW_004955411:24,757,445...24,814,643 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,993,161...4,996,922
Ensembl chrNW_004955513:4,993,161...4,996,921 		JBrowse link
G Fcn1 ficolin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:3,690,550...3,697,785
Ensembl chrNW_004955513:3,687,232...3,698,673 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chrNW_004955412:27,293,467...27,300,522 JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,056,718...5,061,974 JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,426,623...2,438,019
Ensembl chrNW_004955513:2,425,168...2,437,079 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,273,267...2,281,850
Ensembl chrNW_004955513:2,277,981...2,281,515 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,792,103...4,812,302
Ensembl chrNW_004955513:4,792,779...4,814,999 		JBrowse link
G Gpsm1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,363,534...4,387,356
Ensembl chrNW_004955513:4,361,139...4,387,356 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636 		JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,037,312...2,054,451
Ensembl chrNW_004955513:2,037,312...2,054,451 		JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,304,133...2,320,977
Ensembl chrNW_004955513:2,304,133...2,321,597 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25130867 PMID:25741868 PMID:28492532 PMID:33327715 PMID:33972171 NCBI chrNW_004955520:3,485,816...3,521,035
Ensembl chrNW_004955520:3,485,816...3,520,549 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,304,483...4,313,087
Ensembl chrNW_004955513:4,304,483...4,313,087 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,712,772...4,765,657
Ensembl chrNW_004955513:4,712,516...4,765,657 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,063,245...4,066,160
Ensembl chrNW_004955513:4,063,999...4,066,160 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,997,015...5,003,691
Ensembl chrNW_004955513:4,998,288...5,003,691 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,860,420...4,863,716
Ensembl chrNW_004955513:4,860,662...4,863,648 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,877,845...4,879,978
Ensembl chrNW_004955513:4,877,501...4,879,978 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,786,615...4,788,768 JBrowse link
G Lcnl1 lipocalin like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,012,879...5,015,482 JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,464,149...4,470,962
Ensembl chrNW_004955513:4,464,149...4,470,962 		JBrowse link
G LOC102007967 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9545407 PMID:12215968 PMID:12910490 PMID:17314340 PMID:17403714 More... NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383 		JBrowse link
G LOC102017801 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:12474143 PMID:15863660 PMID:17576681 PMID:21412973 More... NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556 		JBrowse link
G LOC102022268 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:23665194 PMID:23814038 PMID:25741868 More... NCBI chrNW_004955467:3,294,200...3,415,778
Ensembl chrNW_004955467:3,292,018...3,415,778 		JBrowse link
G LOC102024671 translational activator of cytochrome c oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chrNW_004955478:8,198,563...8,204,820
Ensembl chrNW_004955478:8,199,244...8,204,577 		JBrowse link
G LOC102030058 protein SCO1 homolog, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 NCBI chrNW_004955467:6,519,873...6,535,321
Ensembl chrNW_004955467:6,519,873...6,537,753 		JBrowse link
G Loxl3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955424:11,236,415...11,255,801
Ensembl chrNW_004955424:11,236,836...11,259,570 		JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955441:11,012,910...11,116,965 JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,932,596...4,941,330
Ensembl chrNW_004955513:4,933,927...4,941,160 		JBrowse link
G Man1b1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,109,651...5,122,568
Ensembl chrNW_004955513:5,111,046...5,122,442 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,697,812...2,704,748
Ensembl chrNW_004955513:2,697,585...2,704,748 		JBrowse link
G Mrpl39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:8602753 PMID:25741868 PMID:37133451 NCBI chrNW_004955407:25,474,843...25,491,114
Ensembl chrNW_004955407:25,474,899...25,491,634 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,055,814...4,058,507
Ensembl chrNW_004955513:4,055,819...4,062,049 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793 PMID:25741868 PMID:28777931 NCBI chrNW_004955442:15,496,639...15,497,757
Ensembl chrNW_004955442:15,496,639...15,497,757 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,835,466...2,842,325
Ensembl chrNW_004955513:2,833,234...2,842,325 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,560,903...4,595,081
Ensembl chrNW_004955513:4,561,643...4,595,364 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955542:1,329,802...1,370,109
Ensembl chrNW_004955542:1,329,212...1,370,695 		JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:35141356 NCBI chrNW_004955405:31,607,182...31,621,538
Ensembl chrNW_004955405:31,606,924...31,621,590 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25741868 PMID:32722639 NCBI chrNW_004955524:2,426,604...2,433,682
Ensembl chrNW_004955524:2,426,604...2,433,679 		JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955418:52,952...55,060
Ensembl chrNW_004955418:52,952...55,060 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955413:2,435,717...2,475,158
Ensembl chrNW_004955413:2,435,775...2,475,331 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:16200211 PMID:18180188 PMID:20818383 PMID:21364701 PMID:21924235 More... NCBI chrNW_004955446:7,345,467...7,439,885 JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25326635 PMID:25356970 More... NCBI chrNW_004955415:23,221,084...23,263,548
Ensembl chrNW_004955415:23,221,084...23,262,073 		JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 More... NCBI chrNW_004955417:11,159,449...11,180,323
Ensembl chrNW_004955417:11,150,282...11,180,323 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955457:8,838,216...8,879,059
Ensembl chrNW_004955457:8,838,216...8,883,481 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chrNW_004955468:12,961,873...12,971,278
Ensembl chrNW_004955468:12,961,915...12,971,095 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chrNW_004955422:713,370...717,926
Ensembl chrNW_004955422:709,784...717,926 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:9463323 PMID:10944442 PMID:11112787 PMID:12616398 PMID:12944388 More... NCBI chrNW_004955446:13,764,907...13,864,824
Ensembl chrNW_004955446:13,764,907...13,864,824 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... NCBI chrNW_004955495:6,540,360...6,548,072
Ensembl chrNW_004955495:6,540,450...6,547,975 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:24595071 PMID:25326637 PMID:25741868 More... NCBI chrNW_004955422:17,781,374...17,785,395
Ensembl chrNW_004955422:17,781,204...17,784,404 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chrNW_004955422:17,876,496...17,881,773
Ensembl chrNW_004955422:17,873,872...17,881,773 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G Npdc1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,063,448...5,066,108
Ensembl chrNW_004955513:5,063,704...5,066,106 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955733:6,189...30,455
Ensembl chrNW_004955733:6,189...30,455 		JBrowse link
G Parl presenilin associated rhomboid like ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chrNW_004955420:23,549,125...23,581,782
Ensembl chrNW_004955420:23,548,672...23,582,137 		JBrowse link
G Paxx PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,017,971...5,019,489
Ensembl chrNW_004955513:5,017,971...5,019,489 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,930,951...4,932,509
Ensembl chrNW_004955513:4,930,951...4,932,509 		JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,047,764...4,055,692
Ensembl chrNW_004955513:4,052,413...4,055,691 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,315,159...4,322,609
Ensembl chrNW_004955513:4,315,159...4,322,609 		JBrowse link
G Ppp1r26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,039,819...4,046,482
Ensembl chrNW_004955513:4,042,763...4,046,467 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,009,530...5,012,781
Ensembl chrNW_004955513:5,009,625...5,012,781 		JBrowse link
G Pyroxd2 pyridine nucleotide-disulphide oxidoreductase domain 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955507:4,384,626...4,407,603
Ensembl chrNW_004955507:4,380,667...4,407,601 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,438,078...4,463,276
Ensembl chrNW_004955513:4,438,015...4,463,319 		JBrowse link
G Rabl6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,904,659...4,923,225
Ensembl chrNW_004955513:4,904,958...4,922,599 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,386,293...2,405,161
Ensembl chrNW_004955513:2,386,293...2,405,161 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,745,220...2,754,927
Ensembl chrNW_004955513:2,745,842...2,752,792 		JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,703,765...2,707,803
Ensembl chrNW_004955513:2,704,355...2,707,744 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:3,313,544...3,386,544
Ensembl chrNW_004955513:3,335,897...3,386,994 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,086,379...5,090,876 JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,933,918...2,975,645
Ensembl chrNW_004955513:2,933,918...2,976,931 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:16798039 More... NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO OMIM:256000 MouseDO NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,272,623...4,304,314
Ensembl chrNW_004955513:4,273,581...4,303,157 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
G Slc19a3 solute carrier family 19 member 3 ISO Necrotising encephalopathy, subacute, of Leigh OMIA PMID:8844603 PMID:10664957 PMID:10912920 PMID:19466433 PMID:23469184 More... NCBI chrNW_004955453:6,935,372...6,957,808
Ensembl chrNW_004955453:6,935,371...6,958,103 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,796,086...2,802,051
Ensembl chrNW_004955513:2,796,531...2,802,054 		JBrowse link
G Snapc4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,330,579...4,349,136
Ensembl chrNW_004955513:4,330,293...4,350,012 		JBrowse link
G Sod2 superoxide dismutase 2 ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,767,591...4,771,654 JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,184,878...2,196,367
Ensembl chrNW_004955513:2,185,754...2,196,323 		JBrowse link
G Stkld1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,726,339...2,745,099
Ensembl chrNW_004955513:2,726,339...2,744,998 		JBrowse link
G Surf1 surfeit 1 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:2933018 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 More... NCBI chrNW_004955513:2,707,877...2,711,606
Ensembl chrNW_004955513:2,707,951...2,711,566 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,711,605...2,715,667
Ensembl chrNW_004955513:2,711,679...2,714,789 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,715,638...2,719,537
Ensembl chrNW_004955513:2,714,321...2,720,073 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,691,648...2,696,018
Ensembl chrNW_004955513:2,692,806...2,696,481 		JBrowse link
G Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955422:17,768,469...17,778,976
Ensembl chrNW_004955422:17,768,469...17,779,003 		JBrowse link
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955427:19,208,029...19,234,763
Ensembl chrNW_004955427:19,209,857...19,235,097 		JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955418:55,110...61,670
Ensembl chrNW_004955418:55,110...61,705 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,892,650...4,894,371
Ensembl chrNW_004955513:4,892,674...4,894,371 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,520,445...4,524,203
Ensembl chrNW_004955513:4,520,445...4,524,203 		JBrowse link
G Traf2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,964,692...4,984,359
Ensembl chrNW_004955513:4,967,984...4,983,987 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:1,804,690...1,829,705 JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:5,095,744...5,101,170
Ensembl chrNW_004955513:5,095,068...5,101,289 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:4,620,978...4,640,318
Ensembl chrNW_004955513:4,621,242...4,640,318 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:2,985,246...3,121,324
Ensembl chrNW_004955513:2,985,246...3,121,324 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004955513:3,198,655...3,213,754
Ensembl chrNW_004955513:3,198,980...3,216,468 		JBrowse link
Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436 		JBrowse link
Leigh Syndrome, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955586:5,856...99,662
Ensembl chrNW_004955586:5,345...99,534 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:1293379 PMID:3034892 PMID:9671272 PMID:10486093 PMID:20002461 More... NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928 		JBrowse link
G Pdhx pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:11,335,766...11,405,565
Ensembl chrNW_004955422:11,335,766...11,405,565 		JBrowse link
Lesch-Nyhan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Lesch-Nyhan syndrome OMIM
ClinVar		 PMID:1301916 PMID:1434518 PMID:1551676 PMID:1618489 PMID:1639405 More... NCBI chrNW_004955473:462,940...510,006 JBrowse link
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant ClinVar PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 More... NCBI chrNW_004955473:462,940...510,006 JBrowse link
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: LIPT1-related condition | ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency OMIM
ClinVar		 PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chrNW_004955470:5,480,279...5,492,259
Ensembl chrNW_004955470:5,480,279...5,492,250 		JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: LIPT1-related condition | ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chrNW_004955470:5,493,361...5,509,437
Ensembl chrNW_004955470:5,493,144...5,509,437 		JBrowse link
G Zswim6 zinc finger SWIM-type containing 6 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25741868 PMID:28492532 PMID:29198722 PMID:31042466 NCBI chrNW_004955446:7,010,005...7,188,763
Ensembl chrNW_004955446:7,011,836...7,188,521 		JBrowse link
Lysine Intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Lysine intolerance ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338 		JBrowse link
maple syrup urine disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:590,202...596,846
Ensembl chrNW_004955578:591,129...595,427 		JBrowse link
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:4,622,142...4,684,439
Ensembl chrNW_004955435:4,621,991...4,688,139 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:950,258...1,004,438
Ensembl chrNW_004955578:967,593...1,004,438 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:941,539...961,407 JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:189,445...218,509
Ensembl chrNW_004955555:189,174...218,565 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:2703538 PMID:11825067 PMID:12888983 PMID:20136525 PMID:28492532 NCBI chrNW_004955555:357,726...359,695
Ensembl chrNW_004955555:357,726...359,695 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:288,919...295,861
Ensembl chrNW_004955555:288,919...295,860 		JBrowse link
G Bcat2 branched chain amino acid transaminase 2 ISO CTD Direct Evidence: marker/mechanism
OMIM:246900 | OMIM:248600 | OMIM:615135		 CTD
MouseDO
RGD		 PMID:14755340 RGD:1300291 NCBI chrNW_004955559:1,785,253...1,796,838
Ensembl chrNW_004955559:1,785,253...1,797,899 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: PPM1K-related condition
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant		 ClinVar PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 More... NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant		 ClinVar PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 More... NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363 		JBrowse link
G Bckdk branched chain keto acid dehydrogenase kinase ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar PMID:25741868 PMID:35205278 NCBI chrNW_004955493:7,940,358...7,946,317
Ensembl chrNW_004955493:7,940,315...7,946,317 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:813,834...834,675
Ensembl chrNW_004955578:813,480...838,151 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:255,906...269,432
Ensembl chrNW_004955555:257,127...269,432 		JBrowse link
G Ccnp cyclin P ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:1,009,159...1,013,368 JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605 		JBrowse link
G Cdc14a cell division cycle 14A ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:5,099,576...5,230,252
Ensembl chrNW_004955435:5,099,107...5,248,679 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:613,549...641,587
Ensembl chrNW_004955555:613,665...638,369 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:541,648...543,878
Ensembl chrNW_004955555:541,708...543,878 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:615,820...635,488
Ensembl chrNW_004955578:615,381...635,488 		JBrowse link
G CUNH19orf47 chromosome unknown C19orf47 homolog ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:905,540...925,570
Ensembl chrNW_004955578:905,661...925,570 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 More... NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:684,523...701,915
Ensembl chrNW_004955555:684,523...701,915 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955468:70,714...78,831
Ensembl chrNW_004955468:71,004...78,827 		JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:362,287...370,276
Ensembl chrNW_004955555:362,287...370,276 		JBrowse link
G Dmrtc2 DMRT like family C2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:983,451...989,044
Ensembl chrNW_004955555:983,272...988,950 		JBrowse link
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:5,618,646...5,659,403
Ensembl chrNW_004955435:5,615,143...5,659,125 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:1,187,128...1,195,574
Ensembl chrNW_004955578:1,187,742...1,195,574 		JBrowse link
G Egln2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:541,723...557,609
Ensembl chrNW_004955578:548,578...557,609 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955468:29,927...32,947
Ensembl chrNW_004955468:30,076...31,387 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955468:48,573...50,029 JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478 NCBI chrNW_004955502:7,764,451...7,774,503
Ensembl chrNW_004955502:7,764,359...7,774,572 		JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:369,918...373,848
Ensembl chrNW_004955555:372,339...373,848 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:328,130...334,106
Ensembl chrNW_004955555:326,698...334,106 		JBrowse link
G Extl2 exostosin like glycosyltransferase 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:5,509,648...5,527,751
Ensembl chrNW_004955435:5,509,648...5,531,458 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:1,176,713...1,186,873
Ensembl chrNW_004955578:1,176,713...1,186,873 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:1,131,446...1,169,440 JBrowse link
G Gpr88 G protein-coupled receptor 88 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:5,268,746...5,271,237 JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:804,907...865,395
Ensembl chrNW_004955555:812,928...864,874 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:668,641...676,351
Ensembl chrNW_004955555:667,973...676,351 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:876,022...884,098
Ensembl chrNW_004955578:876,030...884,098 		JBrowse link
G Hmgn3 high mobility group nucleosomal binding domain 3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478 NCBI chrNW_004955502:7,037,126...7,064,333
Ensembl chrNW_004955502:7,037,126...7,064,053 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:219,185...254,979
Ensembl chrNW_004955555:220,450...257,631 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:597,105...614,081
Ensembl chrNW_004955578:598,351...614,081 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478 NCBI chrNW_004955502:7,325,650...7,373,641
Ensembl chrNW_004955502:7,325,103...7,376,368 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:511,085...531,165
Ensembl chrNW_004955555:514,410...530,759 		JBrowse link
G LOC102004212 cytochrome P450 2F3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:530,094...541,951
Ensembl chrNW_004955578:531,353...541,684 		JBrowse link
G LOC102010839 cytochrome P450 2S1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:167,634...183,572
Ensembl chrNW_004955555:168,139...182,196 		JBrowse link
G Lrrc39 leucine rich repeat containing 39 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:4,900,976...4,961,310
Ensembl chrNW_004955435:4,901,178...4,929,422 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:685,960...712,809
Ensembl chrNW_004955578:686,211...712,794 		JBrowse link
G Lypd4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:989,234...994,901
Ensembl chrNW_004955555:989,941...994,950 		JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:1,018,280...1,037,553
Ensembl chrNW_004955578:1,018,560...1,036,901 		JBrowse link
G Megf8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:549,921...591,978
Ensembl chrNW_004955555:548,416...591,978 		JBrowse link
G Mfsd14a major facilitator superfamily domain containing 14A ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:4,810,919...4,831,829
Ensembl chrNW_004955435:4,810,603...4,830,775 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:570,142...572,959
Ensembl chrNW_004955578:570,142...572,938 		JBrowse link
G Numbl NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:636,298...661,566
Ensembl chrNW_004955578:636,282...661,566 		JBrowse link
G Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:609,925...612,701
Ensembl chrNW_004955555:609,925...612,701 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478 NCBI chrNW_004955502:6,842,149...6,951,791
Ensembl chrNW_004955502:6,842,149...6,935,263 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:884,700...905,426
Ensembl chrNW_004955578:884,700...894,433 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955468:138,262...149,480
Ensembl chrNW_004955468:138,542...149,686 		JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:759,308...793,500
Ensembl chrNW_004955555:759,308...793,485 		JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant | ClinVar Annotator: match by term: PPM1K-related condition		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23086801 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955474:12,229,658...12,250,783
Ensembl chrNW_004955474:12,229,090...12,253,542 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:605,333...610,104
Ensembl chrNW_004955555:605,333...610,058 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:852,789...873,319
Ensembl chrNW_004955578:868,534...874,168 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:1,113,445...1,120,050
Ensembl chrNW_004955578:1,113,445...1,120,370 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:559,029...568,966
Ensembl chrNW_004955578:559,029...568,966 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:897,927...900,406
Ensembl chrNW_004955555:897,846...902,636 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955468:130,244...132,258
Ensembl chrNW_004955468:130,244...132,258 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:969,345...976,122
Ensembl chrNW_004955555:969,340...976,509 		JBrowse link
G Rtca RNA 3'-terminal phosphate cyclase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:5,019,654...5,041,611
Ensembl chrNW_004955435:5,018,944...5,041,700 		JBrowse link
G S1pr1 sphingosine-1-phosphate receptor 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:5,880,266...5,882,823
Ensembl chrNW_004955435:5,880,288...5,881,436 		JBrowse link
G Sass6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:4,832,284...4,876,077
Ensembl chrNW_004955435:4,832,284...4,879,010 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955468:60,744...66,688 JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:848,920...852,193
Ensembl chrNW_004955578:848,486...852,557 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:837,686...841,561
Ensembl chrNW_004955578:837,686...841,561 		JBrowse link
G Sh3bgrl2 SH3 domain binding glutamate rich protein like 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478 NCBI chrNW_004955502:7,517,466...7,575,560
Ensembl chrNW_004955502:7,517,461...7,575,951 		JBrowse link
G Shkbp1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:716,818...730,593
Ensembl chrNW_004955578:716,632...730,593 		JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:5,530,591...5,609,613
Ensembl chrNW_004955435:5,530,591...5,609,613 		JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:4,747,981...4,774,250
Ensembl chrNW_004955435:4,720,633...4,774,809 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:579,087...590,010
Ensembl chrNW_004955578:579,087...590,010 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:730,916...813,740
Ensembl chrNW_004955578:731,814...810,065 		JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955468:95,997...123,005
Ensembl chrNW_004955468:95,181...123,147 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955468:85,681...94,300
Ensembl chrNW_004955468:83,679...95,113 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:592,685...602,950
Ensembl chrNW_004955555:592,940...602,902 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:322,899...326,450
Ensembl chrNW_004955555:322,783...326,599 		JBrowse link
G Trmt13 tRNA methyltransferase 13 homolog ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:4,885,910...4,902,759
Ensembl chrNW_004955435:4,885,925...4,900,962 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955578:1,014,670...1,018,120
Ensembl chrNW_004955578:1,015,124...1,018,135 		JBrowse link
G Ttk TTK protein kinase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478 NCBI chrNW_004955502:7,824,194...7,866,879 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691 		JBrowse link
G Znf526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:678,735...682,967
Ensembl chrNW_004955555:678,735...682,967 		JBrowse link
G Znf574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955555:798,779...804,608
Ensembl chrNW_004955555:798,779...804,608 		JBrowse link
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease type 1A OMIM
ClinVar		 PMID:1356170 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2060625 More... NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Maple syrup urine disease type 1A ClinVar PMID:8312380 PMID:9375800 PMID:11448970 PMID:11509994 PMID:14517957 More... NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease type 1A ClinVar PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 More... NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816 		JBrowse link
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: BCKDHB-related condition | ClinVar Annotator: match by term: Maple syrup urine disease type 1B OMIM
ClinVar		 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:11112664 More... NCBI chrNW_004955411:8,427,875...8,626,564
Ensembl chrNW_004955411:8,437,548...8,628,363 		JBrowse link
Maple Syrup Urine Disease, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbt dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease type 2 OMIM
ClinVar		 PMID:1547285 PMID:1847055 PMID:1943690 PMID:1990841 PMID:2010537 More... NCBI chrNW_004955435:4,975,664...5,005,126
Ensembl chrNW_004955435:4,973,830...5,017,816 		JBrowse link
Maternal Phenylketonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pah phenylalanine hydroxylase ISO RGD PMID:14654659 RGD:1601526 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457 		JBrowse link
G Psph phosphoserine phosphatase ISO RGD PMID:7201630 RGD:2308873 NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar PMID:21419380 PMID:25741868 PMID:28492532 PMID:36199823 NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12850517 More... NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE ClinVar PMID:25741868 PMID:28492532 PMID:29389947 PMID:29915382 NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: MLC1-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 More... NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: HEPACAM-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A OMIM
ClinVar		 PMID:21419380 PMID:21624973 PMID:22405205 PMID:23793458 PMID:25044933 More... NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability OMIM
ClinVar		 PMID:20517947 PMID:21419380 PMID:21624973 PMID:22405205 PMID:23793458 More... NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482 		JBrowse link
Megalencephalic Leukoencephalopathy with Subcortical Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gprc5b G protein-coupled receptor class C group 5 member B ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3 OMIM
ClinVar		 PMID:37143309 NCBI chrNW_004955442:3,548,478...3,571,341
Ensembl chrNW_004955442:3,548,478...3,571,341 		JBrowse link
Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting OMIM
ClinVar		 PMID:25741868 PMID:37143309 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
MELAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: MELAS syndrome ClinVar PMID:22499341 NCBI chrNW_004955457:8,838,216...8,879,059
Ensembl chrNW_004955457:8,838,216...8,883,481 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MELAS syndrome | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
Menkes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha severity ISO ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
DNA:duplication:exon:		 OMIM
ClinVar
RGD		 PMID:7842019 PMID:7977350 PMID:8528242 PMID:8812725 PMID:8981948 More... RGD:12879459 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Atrx ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:25741868 NCBI chrNW_004955424:210,867...279,267
Ensembl chrNW_004955424:226,038...280,593 		JBrowse link
G LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chrNW_004955557:1,341,934...1,348,610
Ensembl chrNW_004955557:1,341,934...1,348,610 		JBrowse link
G Lox lysyl oxidase ISO OMIM:309400 RGD
MouseDO		 PMID:8638917 RGD:1581895 NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chrNW_004955557:1,294,408...1,336,164
Ensembl chrNW_004955557:1,290,615...1,336,198 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chrNW_004955557:1,566,534...1,584,799 JBrowse link
MERRF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,460,975...33,469,935
Ensembl chrNW_004955413:33,465,982...33,466,953 		JBrowse link
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 PMID:28842795 NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428 		JBrowse link
G Alg12 ALG12 alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,030,994...33,039,622
Ensembl chrNW_004955413:33,029,116...33,039,700 		JBrowse link
G Alms1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chrNW_004955424:12,130,496...12,258,684
Ensembl chrNW_004955424:12,130,607...12,258,522 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe		 OMIM
ClinVar		 PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 More... NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 More... NCBI chrNW_004955425:22,120,507...22,281,221
Ensembl chrNW_004955425:22,119,930...22,279,006 		JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:32,935,827...32,973,820
Ensembl chrNW_004955413:32,935,827...32,973,804 		JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15026521 PMID:15211666 PMID:25344692 More... NCBI chrNW_004955413:33,588,375...33,592,054
Ensembl chrNW_004955413:33,588,600...33,591,758 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,509,185...33,511,002
Ensembl chrNW_004955413:33,509,244...33,510,607 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 PMID:34529042 NCBI chrNW_004955494:318,137...349,568
Ensembl chrNW_004955494:319,738...348,511 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,578,734...33,588,055
Ensembl chrNW_004955413:33,578,355...33,588,674 		JBrowse link
G Creld2 cysteine rich with EGF like domains 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,039,931...33,046,622
Ensembl chrNW_004955413:33,040,024...33,046,390 		JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,324,081...33,336,518
Ensembl chrNW_004955413:33,324,087...33,336,518 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chrNW_004955420:23,313,405...23,322,748
Ensembl chrNW_004955420:23,309,378...23,322,698 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency ClinVar PMID:8364584 PMID:8471773 PMID:10502785 PMID:11793482 PMID:16329560 More... NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004955451:17,695,835...17,703,894
Ensembl chrNW_004955451:17,695,835...17,703,268 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency ClinVar PMID:25741868 NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,272,600...33,277,893
Ensembl chrNW_004955413:33,272,714...33,277,686 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chrNW_004955484:1,924,523...1,939,777
Ensembl chrNW_004955484:1,924,523...1,940,552 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,534,794...33,536,614 JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,487,970...33,492,033
Ensembl chrNW_004955413:33,487,917...33,492,033 		JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Mal mal, T cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chrNW_004955470:3,372,577...3,396,868
Ensembl chrNW_004955470:3,372,577...3,398,836 		JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,287,860...33,293,948
Ensembl chrNW_004955413:33,286,390...33,294,227 		JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,278,913...33,285,920
Ensembl chrNW_004955413:33,279,344...33,286,422 		JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15026521 PMID:15211666 PMID:25344692 More... NCBI chrNW_004955413:33,608,092...33,617,984
Ensembl chrNW_004955413:33,608,655...33,617,255 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,476,097...33,478,539
Ensembl chrNW_004955413:33,476,033...33,478,539 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149 		JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,142,857...33,208,897
Ensembl chrNW_004955413:33,142,918...33,208,329 		JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,492,348...33,503,804 JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,220,145...33,224,241
Ensembl chrNW_004955413:33,220,140...33,224,344 		JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,068,033...33,071,344 JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,297,617...33,314,371
Ensembl chrNW_004955413:33,298,317...33,309,961 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 More... NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336 		JBrowse link
G Ppp6r2 protein phosphatase 6 regulatory subunit 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,362,879...33,425,361
Ensembl chrNW_004955413:33,385,084...33,425,226 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild		 ClinVar PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 PMID:28842795 NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,427,283...33,450,581
Ensembl chrNW_004955413:33,427,214...33,452,415 		JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,235,382...33,253,484
Ensembl chrNW_004955413:33,245,456...33,256,387 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,537,646...33,573,787
Ensembl chrNW_004955413:33,537,753...33,563,373 		JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,229,796...33,233,686
Ensembl chrNW_004955413:33,221,807...33,237,274 		JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,086,528...33,119,801
Ensembl chrNW_004955413:33,088,932...33,119,031 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,252,418...33,272,593
Ensembl chrNW_004955413:33,253,524...33,272,215 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748 		JBrowse link
G Zbed4 zinc finger BED-type containing 4 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chrNW_004955413:33,007,750...33,021,180
Ensembl chrNW_004955413:33,007,750...33,021,180 		JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar		 PMID:1371116 PMID:2019586 PMID:8554069 PMID:9536098 PMID:10196694 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chrNW_004955486:2,112,698...2,131,296 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency OMIM
ClinVar		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 PMID:31905202 NCBI chrNW_004955484:8,862,221...8,867,881
Ensembl chrNW_004955484:8,862,206...8,867,771 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 OMIM
ClinVar		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:781,339...791,284 JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 PMID:31905202 NCBI chrNW_004955484:8,857,015...8,859,091
Ensembl chrNW_004955484:8,857,684...8,858,592 		JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470 		JBrowse link
Methylmalonic Aciduria and Homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chrNW_004955464:12,774,018...12,780,612
Ensembl chrNW_004955464:12,772,420...12,780,612 		JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955523:1,170,306...1,181,352
Ensembl chrNW_004955523:1,170,303...1,182,467 		JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chrNW_004955487:3,698,708...3,756,669
Ensembl chrNW_004955487:3,725,286...3,756,698 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 More... NCBI chrNW_004955488:4,774,835...4,879,401
Ensembl chrNW_004955488:4,772,504...4,879,423 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chrNW_004955464:12,774,018...12,780,612
Ensembl chrNW_004955464:12,772,420...12,780,612 		JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chrNW_004955440:15,317,877...15,338,139
Ensembl chrNW_004955440:15,316,822...15,337,688 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: PRDX1-related condition | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM
ClinVar		 PMID:9536098 PMID:16311595 PMID:17576681 PMID:20631720 PMID:23954310 More... NCBI chrNW_004955464:12,761,390...12,773,413
Ensembl chrNW_004955464:12,761,401...12,773,146 		JBrowse link
G Thap11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chrNW_004955484:8,857,015...8,859,091
Ensembl chrNW_004955484:8,857,684...8,858,592 		JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16311595 PMID:16714133 PMID:17431913 PMID:19370762 PMID:19760748 More... NCBI chrNW_004955464:12,774,018...12,780,612
Ensembl chrNW_004955464:12,772,420...12,780,612 		JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD OMIM
ClinVar		 PMID:2339678 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 More... NCBI chrNW_004955440:15,317,877...15,338,139
Ensembl chrNW_004955440:15,316,822...15,337,688 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004955553:2,367,476...2,376,704
Ensembl chrNW_004955553:2,367,480...2,376,704 		JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col19a1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chrNW_004955488:4,984,140...5,288,530
Ensembl chrNW_004955488:4,984,159...5,287,718 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chrNW_004955488:5,296,895...5,384,940
Ensembl chrNW_004955488:5,296,895...5,384,940 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chrNW_004955488:4,774,835...4,879,401
Ensembl chrNW_004955488:4,772,504...4,879,423 		JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG		 ClinVar
OMIM		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:25741868 NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645 		JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chrNW_004955523:1,170,306...1,181,352
Ensembl chrNW_004955523:1,170,303...1,182,467 		JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblL Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblL TYPE ClinVar PMID:25741868 PMID:28449119 PMID:31905202 NCBI chrNW_004955484:8,862,221...8,867,881
Ensembl chrNW_004955484:8,862,206...8,867,771 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblL TYPE OMIM
ClinVar		 PMID:25741868 PMID:28449119 PMID:31905202 NCBI chrNW_004955484:8,857,015...8,859,091
Ensembl chrNW_004955484:8,857,684...8,858,592 		JBrowse link
mevalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955455:8,954,099...8,985,170
Ensembl chrNW_004955455:8,954,094...8,965,866 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Mevalonic aciduria OMIM
ClinVar		 PMID:1377680 PMID:3158961 PMID:8386351 PMID:9334262 PMID:9536098 More... NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:28492532 NCBI chrNW_004955455:8,982,293...9,032,609
Ensembl chrNW_004955455:8,979,448...9,033,111 		JBrowse link
microvillus inclusion disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO OMIM:251850 MouseDO NCBI chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042 		JBrowse link
G Myo5b myosin VB ISO ClinVar Annotator: match by term: Congenital familial protracted diarrhea with enterocyte brush-border abnormalities | ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 More... NCBI chrNW_004955402:34,892,652...35,247,431
Ensembl chrNW_004955402:34,892,652...35,143,704 		JBrowse link
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: ECHS1-related condition | ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25125611 PMID:25393721 PMID:25741868 More... NCBI chrNW_004955477:11,012,451...11,021,487
Ensembl chrNW_004955477:11,012,451...11,021,486 		JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
mucolipidosis II alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis type II OMIM
ClinVar		 PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More... NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993 		JBrowse link
Mucolipidosis III Alpha Beta, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical ClinVar PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532 NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993 		JBrowse link
mucolipidosis III alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy OMIM
ClinVar		 PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993 		JBrowse link
mucolipidosis III gamma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: GNPTG-related condition | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma OMIM
ClinVar		 PMID:3634453 PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 More... NCBI chrNW_004955442:15,870,409...15,881,552
Ensembl chrNW_004955442:15,870,619...15,881,511 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM ClinVar PMID:25741868 NCBI chrNW_004955442:15,827,352...15,870,561
Ensembl chrNW_004955442:15,827,350...15,870,561 		JBrowse link
mucosulfatidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sumf1 sulfatase modifying factor 1 ISO OMIM:272200 MouseDO NCBI chrNW_004955421:8,982,059...9,050,936
Ensembl chrNW_004955421:8,981,211...9,049,948 		JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:12757706 NCBI chrNW_004955456:8,238,301...8,251,682
Ensembl chrNW_004955456:8,238,318...8,251,366 		JBrowse link
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bola3 bolA family member 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 ClinVar
OMIM		 PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 More... NCBI chrNW_004955424:11,583,508...11,590,626
Ensembl chrNW_004955424:11,583,370...11,590,947 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 ClinVar NCBI chrNW_004955424:11,612,124...11,722,130
Ensembl chrNW_004955424:11,617,993...11,714,203 		JBrowse link
N-acetylglutamate synthase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Hyperammonemia due to N-acetylglutamate synthase deficiency | ClinVar Annotator: match by term: NAG synthetase deficiency OMIM
ClinVar		 PMID:12594532 PMID:16199547 PMID:23894642 PMID:25741868 PMID:28492532 NCBI chrNW_004955451:17,182,392...17,186,187
Ensembl chrNW_004955451:17,182,379...17,184,894 		JBrowse link
neonatal-onset type II citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II | ClinVar Annotator: match by term: SLC25A13-related condition OMIM
ClinVar		 PMID:855835 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 More... NCBI chrNW_004955432:12,685,253...12,788,307
Ensembl chrNW_004955432:12,684,596...12,826,667 		JBrowse link
Neuraminidase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Sialidase deficiency ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: NEU1-related condition | ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I OMIM
ClinVar		 PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chrNW_004955437:378,708...383,076
Ensembl chrNW_004955437:378,708...383,085 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: NACC1-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar		 PMID:25741868 PMID:28132692 PMID:28492532 NCBI chrNW_004955415:32,135,633...32,152,059
Ensembl chrNW_004955415:32,136,439...32,152,059 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: MTHFS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30031689 PMID:31844630 PMID:35599849 NCBI chrNW_004955533:720,255...756,893
Ensembl chrNW_004955533:720,353...756,893 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy ClinVar
OMIM		 PMID:25741868 PMID:29648665 PMID:35759269 NCBI chrNW_004955437:8,317,437...8,328,544
Ensembl chrNW_004955437:8,317,437...8,328,804 		JBrowse link
Niemann-Pick disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased expression:cerebellum: RGD PMID:20883783 RGD:8693571 NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239 		JBrowse link
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chrNW_004955414:22,121,867...22,137,849
Ensembl chrNW_004955414:22,117,470...22,137,849 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO DNA:mutation:multiple RGD
MouseDO		 PMID:11567215 RGD:1601483 NCBI chrNW_004955523:1,010,976...1,021,048
Ensembl chrNW_004955523:1,010,976...1,021,144 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 susceptibility ISO Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple
ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency		 RGD
ClinVar		 PMID:1391960 PMID:1885770 PMID:2023926 PMID:8053910 PMID:8664904 More... RGD:1601336 NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
Niemann-Pick disease type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chrNW_004955414:22,121,867...22,137,849
Ensembl chrNW_004955414:22,117,470...22,137,849 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chrNW_004955523:1,010,976...1,021,048
Ensembl chrNW_004955523:1,010,976...1,021,144 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
Niemann-Pick disease type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chrNW_004955414:22,121,867...22,137,849
Ensembl chrNW_004955414:22,117,470...22,137,849 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chrNW_004955523:1,010,976...1,021,048
Ensembl chrNW_004955523:1,010,976...1,021,144 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
Niemann-Pick disease type C1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd3 abhydrolase domain containing 3, phospholipase ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:10,316,881...10,355,760
Ensembl chrNW_004955402:10,316,297...10,356,052 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:18591368 RGD:10047095 NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239 		JBrowse link
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 More... NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273 		JBrowse link
G Ankrd29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,751,417...11,775,499 JBrowse link
G Cables1 Cdk5 and Abl enzyme substrate 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,415,913...11,514,132
Ensembl chrNW_004955402:11,414,271...11,513,030 		JBrowse link
G Esco1 establishment of sister chromatid cohesion N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:10,207,621...10,257,363
Ensembl chrNW_004955402:10,207,527...10,262,995 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:9,865,934...10,204,990
Ensembl chrNW_004955402:10,104,225...10,201,479 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,980,980...12,362,143 JBrowse link
G Lipa lipase A, lysosomal acid type ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:10,392,308...10,502,576
Ensembl chrNW_004955402:10,392,308...10,502,576 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form		 OMIM
ClinVar		 PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 More... NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 More... NCBI chrNW_004955523:1,010,976...1,021,048
Ensembl chrNW_004955523:1,010,976...1,021,144 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,245,857...11,331,872
Ensembl chrNW_004955402:11,245,819...11,335,367 		JBrowse link
G Riok3 RIO kinase 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,649,160...11,670,010
Ensembl chrNW_004955402:11,648,849...11,672,545 		JBrowse link
G Rmc1 regulator of MON1-CCZ1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:25741868 PMID:28492532 NCBI chrNW_004955402:11,676,883...11,699,715
Ensembl chrNW_004955402:11,676,671...11,699,709 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:12369017 PMID:15221801 PMID:25741868 PMID:26499107 PMID:27243974 More... NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:10,283,970...10,294,869
Ensembl chrNW_004955402:10,283,970...10,296,495 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687 		JBrowse link
G Syndig1l synapse differentiation inducing 1 like ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:25741868 NCBI chrNW_004955523:1,092,463...1,095,567
Ensembl chrNW_004955523:1,091,744...1,095,652 		JBrowse link
G Tmem241 transmembrane protein 241 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,514,232...11,641,494
Ensembl chrNW_004955402:11,530,611...11,641,687 		JBrowse link
Niemann-Pick disease type C2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 More... NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 OMIM
ClinVar		 PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More... NCBI chrNW_004955523:1,010,976...1,021,048
Ensembl chrNW_004955523:1,010,976...1,021,144 		JBrowse link
Niemann-Pick Disease Type D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type D OMIM
ClinVar		 PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 More... NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral ClinVar PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 More... NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
Non Ketotic Hyperglycinemia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glyctk glycerate kinase ISO ClinVar Annotator: match by term: Non ketotic hyperglycinemia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868 		JBrowse link
oculocerebrorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt1 actin related protein T1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chrNW_004955473:6,849,016...6,850,445 JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chrNW_004955473:5,346,822...5,356,359
Ensembl chrNW_004955473:5,346,747...5,356,359 		JBrowse link
G Ocrl OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome | ClinVar Annotator: match by term: Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency OMIM
ClinVar		 PMID:8504307 PMID:9199559 PMID:9536098 PMID:9632163 PMID:9682219 More... NCBI chrNW_004955473:5,429,084...5,482,377
Ensembl chrNW_004955473:5,431,395...5,482,385 		JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chrNW_004955473:5,224,635...5,237,066
Ensembl chrNW_004955473:5,222,408...5,237,260 		JBrowse link
G Smarca1 SNF2 related chromatin remodeling ATPase 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chrNW_004955473:5,498,738...5,572,863
Ensembl chrNW_004955473:5,498,674...5,573,169 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chrNW_004955473:5,248,065...5,274,469
Ensembl chrNW_004955473:5,245,746...5,274,698 		JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chrNW_004955473:5,174,575...5,208,767
Ensembl chrNW_004955473:5,174,563...5,208,767 		JBrowse link
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955565:2,006,154...2,029,921 JBrowse link
G Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329 		JBrowse link
G CUNHXorf38 chromosome unknown CXorf38 homolog ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955565:1,963,195...1,983,171
Ensembl chrNW_004955565:1,963,196...1,983,171 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004955587:828,730...838,614
Ensembl chrNW_004955587:827,278...838,869 		JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955516:3,867,542...4,036,049
Ensembl chrNW_004955516:3,867,535...4,036,293 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955531:106,761...183,347 JBrowse link
G Hypm huntingtin interacting protein M ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004955601:38,906...39,259 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845 		JBrowse link
G Lancl3 LanC like family member 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955587:556,105...658,735
Ensembl chrNW_004955587:556,105...658,735 		JBrowse link
G LOC102012042 cytochrome b-245 heavy chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912 		JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955499:8,159,691...8,173,930 JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955565:1,888,442...1,959,141
Ensembl chrNW_004955565:1,888,443...1,959,141 		JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955566:287,578...289,803
Ensembl chrNW_004955566:287,578...289,803 		JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1 like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955565:1,981,707...1,986,643 JBrowse link
G Nr0b1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955531:567,491...572,329
Ensembl chrNW_004955531:567,173...572,331 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency OMIM
ClinVar		 PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 More... NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176 		JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955587:289,906...388,534
Ensembl chrNW_004955587:287,845...388,557 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004955601:398,772...453,271 JBrowse link
G Srpx sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004955601:286,092...364,235
Ensembl chrNW_004955601:286,069...364,235 		JBrowse link
G Sytl5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004955601:76,647...210,198
Ensembl chrNW_004955601:76,647...210,208 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955535:3,547,556...3,612,705
Ensembl chrNW_004955535:3,585,243...3,612,790 		JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955531:207,614...293,127
Ensembl chrNW_004955531:267,216...293,127 		JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955571:1,192,213...1,222,057
Ensembl chrNW_004955571:1,191,700...1,222,309 		JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955566:75,576...203,512
Ensembl chrNW_004955566:75,576...206,827 		JBrowse link
G Usp9x ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004955565:1,479,040...1,602,070
Ensembl chrNW_004955565:1,479,040...1,602,070 		JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004955587:668,871...725,829
Ensembl chrNW_004955587:668,070...728,959 		JBrowse link
ornithine translocase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a15 solute carrier family 25 member 15 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency OMIM
ClinVar		 PMID:3407856 PMID:9536098 PMID:10369256 PMID:10805333 PMID:11355015 More... NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197 		JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:439,061...505,418 JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:526,844...528,406
Ensembl chrNW_004955548:526,549...529,753 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chrNW_004955548:1,087,441...1,095,070 JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chrNW_004955548:1,017,047...1,046,580
Ensembl chrNW_004955548:1,016,991...1,046,580 		JBrowse link
G Gjc2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:15192806 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chrNW_004955581:291,537...294,752 JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chrNW_004955548:1,462,746...2,623,622
Ensembl chrNW_004955548:1,518,695...2,623,232 		JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955521:4,583,691...4,612,271
Ensembl chrNW_004955521:4,583,671...4,612,271 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chrNW_004955548:682,409...685,886
Ensembl chrNW_004955548:682,409...685,900 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild OMIM
ClinVar		 PMID:1047279 PMID:1376553 PMID:1376966 PMID:1384324 PMID:1605230 More... NCBI chrNW_004955548:781,522...797,246
Ensembl chrNW_004955548:781,015...797,935 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild ClinVar PMID:1047279 PMID:1376553 PMID:1376966 PMID:1384324 PMID:1605230 More... NCBI chrNW_004955548:825,208...829,815 JBrowse link
G Slc25a53 solute carrier family 25 member 53 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chrNW_004955548:947,623...1,008,085
Ensembl chrNW_004955548:947,623...1,003,086 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chrNW_004955548:655,219...655,671 JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:467,664...470,196 JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:391,202...393,533
Ensembl chrNW_004955548:391,202...393,533 		JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:505,524...507,210
Ensembl chrNW_004955548:505,592...507,360 		JBrowse link
G Zcchc18 zinc finger CCHC-type containing 18 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chrNW_004955548:956,736...959,379 JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy		 OMIM
ClinVar		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chrNW_004955506:6,286,824...6,309,764
Ensembl chrNW_004955506:6,286,648...6,312,716 		JBrowse link
G Fbf1 Fas binding factor 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,327,153...6,354,341
Ensembl chrNW_004955506:6,327,466...6,354,653 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,489,799...6,493,354
Ensembl chrNW_004955506:6,489,800...6,493,354 		JBrowse link
G H3f3b H3 histone, family 3B ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,475,336...6,478,781
Ensembl chrNW_004955506:6,474,727...6,482,244 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778 		JBrowse link
G Mrpl38 mitochondrial ribosomal protein L38 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,355,861...6,361,107
Ensembl chrNW_004955506:6,354,994...6,361,607 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:8040306 PMID:17458872 PMID:25741868 PMID:28492532 NCBI chrNW_004955506:6,252,146...6,286,675
Ensembl chrNW_004955506:6,250,726...6,287,093 		JBrowse link
G Trim47 tripartite motif containing 47 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,379,088...6,383,671
Ensembl chrNW_004955506:6,379,088...6,385,446 		JBrowse link
G Trim65 tripartite motif containing 65 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,362,360...6,366,743
Ensembl chrNW_004955506:6,362,396...6,366,591 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,407,073...6,423,406
Ensembl chrNW_004955506:6,407,723...6,423,406 		JBrowse link
G Unk unk zinc finger ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,424,638...6,470,406
Ensembl chrNW_004955506:6,424,638...6,470,874 		JBrowse link
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chrNW_004955506:6,398,411...6,406,970
Ensembl chrNW_004955506:6,397,541...6,409,290 		JBrowse link
peroxisome biogenesis disorder 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: PEX3-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger) OMIM
ClinVar		 PMID:7562283 PMID:9536098 PMID:10942428 PMID:10958759 PMID:10968777 More... NCBI chrNW_004955436:16,918,259...16,956,242
Ensembl chrNW_004955436:16,917,008...16,956,242 		JBrowse link
peroxisome biogenesis disorder 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH2orf74 chromosome unknown C2orf74 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955424:22,709,676...22,712,178 JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) OMIM
ClinVar		 PMID:9480815 PMID:9536098 PMID:10332040 PMID:10441568 PMID:16006427 More... NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:9536098 PMID:10332040 PMID:16199547 PMID:17576681 PMID:19449432 More... NCBI chrNW_004955424:22,830,889...22,899,420
Ensembl chrNW_004955424:22,832,882...22,899,420 		JBrowse link
G Sanbr SANT and BTB domain regulator of CSR ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:19449432 PMID:28492532 NCBI chrNW_004955424:22,728,802...22,785,374
Ensembl chrNW_004955424:22,728,802...22,785,374 		JBrowse link
G Usp34 ubiquitin specific peptidase 34 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955424:22,434,292...22,689,944
Ensembl chrNW_004955424:22,474,098...22,689,322 		JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955424:22,370,006...22,420,568
Ensembl chrNW_004955424:22,370,006...22,420,568 		JBrowse link
peroxisome biogenesis disorder 12A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400 		JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955468:11,967,678...11,978,836
Ensembl chrNW_004955468:11,967,678...11,978,836 		JBrowse link
G Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955468:12,062,942...12,111,048
Ensembl chrNW_004955468:12,059,089...12,111,805 		JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955468:11,991,779...12,037,541
Ensembl chrNW_004955468:11,991,779...12,036,835 		JBrowse link
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955468:12,111,078...12,126,404
Ensembl chrNW_004955468:12,111,078...12,127,033 		JBrowse link
G Pea15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955468:11,981,956...11,991,427
Ensembl chrNW_004955468:11,981,960...11,991,427 		JBrowse link
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) OMIM
ClinVar		 PMID:9536098 PMID:10051604 PMID:16199547 PMID:17576681 PMID:20683989 More... NCBI chrNW_004955468:12,049,043...12,057,751
Ensembl chrNW_004955468:12,049,043...12,057,364 		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: PEX14-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger) OMIM
ClinVar		 PMID:15146459 PMID:18285423 PMID:25741868 PMID:28492532 NCBI chrNW_004955486:2,981,026...3,129,721
Ensembl chrNW_004955486:2,980,700...3,129,721 		JBrowse link
peroxisome biogenesis disorder 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:11389485 PMID:12032265 More... NCBI chrNW_004955432:9,389,020...9,398,791 JBrowse link
G Paf1 PAF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 NCBI chrNW_004955468:166,477...172,200 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:3196484 PMID:9398847 More... NCBI chrNW_004955432:9,418,480...9,461,507
Ensembl chrNW_004955432:9,418,678...9,461,419 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955481:10,057,494...10,060,492
Ensembl chrNW_004955481:10,057,494...10,063,935 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004955486:2,981,026...3,129,721
Ensembl chrNW_004955486:2,980,700...3,129,721 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:2,054,867...2,060,871
Ensembl chrNW_004955422:2,055,446...2,061,729 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955468:12,049,043...12,057,751
Ensembl chrNW_004955468:12,049,043...12,057,364 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955444:3,811,972...3,830,666
Ensembl chrNW_004955444:3,811,973...3,830,666 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:16257970 PMID:25741868 PMID:28492532 NCBI chrNW_004955454:6,097,251...6,115,430 JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:7562283 PMID:10958759 PMID:10968777 PMID:25741868 NCBI chrNW_004955436:16,918,259...16,956,242
Ensembl chrNW_004955436:16,917,008...16,956,242 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955437:8,945,842...8,964,870
Ensembl chrNW_004955437:8,947,002...8,960,371 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004955424:22,830,889...22,899,420
Ensembl chrNW_004955424:22,832,882...22,899,420 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955432:9,461,507...9,498,099
Ensembl chrNW_004955432:9,461,797...9,467,405 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004955486:8,791,457...8,802,691
Ensembl chrNW_004955486:8,791,457...8,802,691 		JBrowse link
G Samd4b sterile alpha motif domain containing 4B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 NCBI chrNW_004955468:172,331...199,230
Ensembl chrNW_004955468:172,352...199,230 		JBrowse link
peroxisome biogenesis disorder 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) OMIM
ClinVar		 PMID:7719337 PMID:9536098 PMID:17576681 PMID:18712838 PMID:21031596 More... NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774 		JBrowse link
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,251,608...4,262,095 JBrowse link
G Acsm4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955493:6,023...31,418
Ensembl chrNW_004955493:6,023...31,418 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:6,471,933...6,480,475
Ensembl chrNW_004955413:6,471,953...6,480,469 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,652,156...4,660,897
Ensembl chrNW_004955413:4,652,308...4,660,304 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,663,643...4,670,454
Ensembl chrNW_004955413:4,662,303...4,670,638 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,620,450...4,630,860
Ensembl chrNW_004955413:4,620,450...4,630,860 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:6,707,003...6,715,689
Ensembl chrNW_004955413:6,707,689...6,715,689 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,102,740...4,107,739
Ensembl chrNW_004955413:4,103,126...4,107,420 		JBrowse link
G Cd4 CD4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,400,326...4,422,110
Ensembl chrNW_004955413:4,408,390...4,421,535 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,448,711...4,450,917
Ensembl chrNW_004955413:4,448,917...4,450,553 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,191,619...4,228,225
Ensembl chrNW_004955413:4,191,619...4,228,225 		JBrowse link
G Clec4d C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:5,267,548...5,276,969
Ensembl chrNW_004955413:5,267,161...5,277,090 		JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:5,256,523...5,261,385
Ensembl chrNW_004955413:5,256,440...5,262,938 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,690,637...4,719,929
Ensembl chrNW_004955413:4,690,637...4,719,929 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,337,117...4,343,640
Ensembl chrNW_004955413:4,337,117...4,343,722 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,563,864...4,570,809
Ensembl chrNW_004955413:4,563,864...4,570,809 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,498,625...4,506,769
Ensembl chrNW_004955413:4,498,625...4,506,769 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:6,692,343...6,705,760
Ensembl chrNW_004955413:6,686,398...6,703,173 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:6,493,734...6,516,315 JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,440,693...4,447,419
Ensembl chrNW_004955413:4,440,693...4,447,416 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,425,609...4,428,901
Ensembl chrNW_004955413:4,425,344...4,428,901 		JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,167,461...4,180,043
Ensembl chrNW_004955413:4,167,461...4,180,042 		JBrowse link
G Ing4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,263,647...4,274,476
Ensembl chrNW_004955413:4,263,647...4,274,476 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,379,529...4,385,456
Ensembl chrNW_004955413:4,378,972...4,385,909 		JBrowse link
G LOC102009926 chromosome unknown open reading frame, human C12orf57 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,524,236...4,525,760
Ensembl chrNW_004955413:4,524,236...4,525,760 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,238,312...4,249,869
Ensembl chrNW_004955413:4,238,319...4,249,869 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,571,028...4,605,097
Ensembl chrNW_004955413:4,571,028...4,605,097 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,491,443...4,498,283
Ensembl chrNW_004955413:4,491,573...4,498,283 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,031,659...4,038,396
Ensembl chrNW_004955413:4,031,754...4,038,992 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:6,401,429...6,415,177
Ensembl chrNW_004955413:6,402,293...6,413,992 		JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,359,936...4,364,284
Ensembl chrNW_004955413:4,359,936...4,364,284 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,135,206...4,136,392
Ensembl chrNW_004955413:4,135,206...4,136,392 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:6,561,323...6,565,770 JBrowse link
G Ncapd2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,136,492...4,160,550
Ensembl chrNW_004955413:4,137,216...4,160,550 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:6,737,785...6,751,672
Ensembl chrNW_004955413:6,737,785...6,754,162 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,180,463...4,190,827
Ensembl chrNW_004955413:4,180,573...4,190,490 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,429,558...4,440,602
Ensembl chrNW_004955413:4,429,633...4,440,256 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B OMIM
ClinVar		 PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,557,969...4,563,697
Ensembl chrNW_004955413:4,558,259...4,563,582 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,309,104...4,314,961
Ensembl chrNW_004955413:4,309,104...4,314,961 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,376,955...4,378,253
Ensembl chrNW_004955413:4,376,955...4,377,759 		JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,525,954...4,547,177
Ensembl chrNW_004955413:4,525,954...4,547,177 		JBrowse link
G Rbp5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:4,682,477...4,689,949
Ensembl chrNW_004955413:4,682,477...4,689,949 		JBrowse link
G Rimklb ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chrNW_004955413:6,298,833...6,362,812
Ensembl chrNW_004955413:6,306,414...6,346,278 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596 		JBrowse link
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,108,044...4,116,413
Ensembl chrNW_004955413:4,108,052...4,115,760 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,451,530...4,466,832
Ensembl chrNW_004955413:4,451,622...4,466,832 		JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,117,367...4,124,149
Ensembl chrNW_004955413:4,117,367...4,124,149 		JBrowse link
G Znf384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,277,059...4,302,638
Ensembl chrNW_004955413:4,278,248...4,290,550 		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:9090384 PMID:9632816 PMID:21031596 PMID:28492532 NCBI chrNW_004955481:10,061,021...10,175,070
Ensembl chrNW_004955481:10,064,220...10,175,627 		JBrowse link
G Fndc8 fibronectin type III domain containing 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 NCBI chrNW_004955481:9,812,402...9,820,070
Ensembl chrNW_004955481:9,812,156...9,819,865 		JBrowse link
G Gas2l2 growth arrest specific 2 like 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 NCBI chrNW_004955481:10,190,738...10,202,298
Ensembl chrNW_004955481:10,193,077...10,200,959 		JBrowse link
G Nle1 notchless homolog 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 NCBI chrNW_004955481:9,821,329...9,830,350
Ensembl chrNW_004955481:9,821,329...9,830,555 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) OMIM
ClinVar		 PMID:9090384 PMID:9354782 PMID:9536098 PMID:9632816 PMID:9792857 More... NCBI chrNW_004955481:10,057,494...10,060,492
Ensembl chrNW_004955481:10,057,494...10,063,935 		JBrowse link
G Rad51d RAD51 paralog D ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 NCBI chrNW_004955481:9,795,102...9,810,426
Ensembl chrNW_004955481:9,795,102...9,810,426 		JBrowse link
G Rasl10b RAS like family 10 member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 NCBI chrNW_004955481:10,183,635...10,192,155
Ensembl chrNW_004955481:10,180,009...10,192,155 		JBrowse link
G Slfn11 schlafen family member 11 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 NCBI chrNW_004955481:9,885,798...9,900,330 JBrowse link
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 NCBI chrNW_004955481:10,037,941...10,046,549
Ensembl chrNW_004955481:10,037,941...10,046,549 		JBrowse link
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 NCBI chrNW_004955481:9,833,918...9,860,202
Ensembl chrNW_004955481:9,833,905...9,860,697 		JBrowse link
peroxisome biogenesis disorder 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) OMIM
ClinVar		 PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chrNW_004955437:8,945,842...8,964,870
Ensembl chrNW_004955437:8,947,002...8,960,371 		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: PEX2-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger) OMIM
ClinVar		 PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chrNW_004955444:3,811,972...3,830,666
Ensembl chrNW_004955444:3,811,973...3,830,666 		JBrowse link
peroxisome biogenesis disorder 6A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) OMIM
ClinVar		 PMID:7565793 PMID:8982949 PMID:9536098 PMID:9683594 PMID:9700193 More... NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) ClinVar PMID:25741868 NCBI chrNW_004955486:8,791,457...8,802,691
Ensembl chrNW_004955486:8,791,457...8,802,691 		JBrowse link
peroxisome biogenesis disorder 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004955454:5,820,291...5,983,262
Ensembl chrNW_004955454:5,820,299...5,983,101 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) OMIM
ClinVar		 PMID:9090381 PMID:9536098 PMID:12717447 PMID:12851857 PMID:15542397 More... NCBI chrNW_004955454:6,097,251...6,115,430 JBrowse link
G Tuba8 tubulin alpha 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) ClinVar PMID:12851857 PMID:21031596 PMID:28492532 NCBI chrNW_004955454:6,129,821...6,148,645
Ensembl chrNW_004955454:6,129,612...6,148,645 		JBrowse link
peroxisome biogenesis disorder 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmut methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX16 defect OMIM
ClinVar		 PMID:9536098 PMID:9837814 PMID:11890679 PMID:17576681 PMID:20647552 More... NCBI chrNW_004955422:2,054,867...2,060,871
Ensembl chrNW_004955422:2,055,446...2,061,729 		JBrowse link
Peroxisome biogenesis disorder 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955439:1,277,185...1,460,296
Ensembl chrNW_004955439:1,276,760...1,474,202 		JBrowse link
G Bclaf1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955439:608,849...641,005
Ensembl chrNW_004955439:608,861...641,005 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955436:22,183,318...22,199,013 JBrowse link
G Il20ra interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955436:22,281,422...22,323,242
Ensembl chrNW_004955436:22,281,713...22,326,229 		JBrowse link
G Il22ra2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955436:22,208,267...22,219,667
Ensembl chrNW_004955436:22,211,175...22,220,566 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955439:162,499...376,919
Ensembl chrNW_004955439:163,103...377,808 		JBrowse link
G Map7 microtubule associated protein 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955439:404,212...548,732 JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955439:643,289...662,921
Ensembl chrNW_004955439:646,432...663,033 		JBrowse link
G Olig3 oligodendrocyte transcription factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955436:21,929,086...21,929,904
Ensembl chrNW_004955436:21,929,086...21,929,904 		JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955439:686,197...985,591
Ensembl chrNW_004955439:686,130...985,732 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B OMIM
ClinVar		 PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chrNW_004955439:71,302...138,278
Ensembl chrNW_004955439:71,302...138,278 		JBrowse link
G Slc35d3 solute carrier family 35 member D3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955439:60,689...63,968
Ensembl chrNW_004955439:60,615...64,052 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chrNW_004955436:21,566,591...21,581,551
Ensembl chrNW_004955436:21,566,423...21,578,469 		JBrowse link
phenylketonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:1301187 PMID:9634518 PMID:11434725 PMID:28492532 NCBI chrNW_004955405:37,941,243...37,943,641
Ensembl chrNW_004955405:37,941,243...37,943,641 		JBrowse link
G Cast calpastatin ISO mRNA, protein:decreased expression:brain RGD PMID:15863237 RGD:5509818 NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169 		JBrowse link
G Cat catalase ISO protein:decreased activity:brain: RGD PMID:23232760 RGD:9068874 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO RGD PMID:24488205 RGD:10449120 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric ClinVar PMID:15389992 PMID:19491146 PMID:24993959 PMID:25125585 PMID:25398234 More... NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:forebrain (mouse) RGD PMID:16153867 RGD:13210766 NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145 		JBrowse link
G Hnf1a HNF1 homeobox A ISO OMIM:261600 MouseDO NCBI chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:decreased expression:brain RGD PMID:7507064 RGD:9693700 NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107 		JBrowse link
G Nsun2 NOP2/Sun RNA methyltransferase 2 ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chrNW_004955504:4,339,044...4,360,176
Ensembl chrNW_004955504:4,338,855...4,361,520 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria		 OMIM
ClinVar		 PMID:1146119 PMID:1301187 PMID:1301193 PMID:1301200 PMID:1301201 More... NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457 		JBrowse link
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chrNW_004955437:20,482,589...20,487,337
Ensembl chrNW_004955437:20,482,589...20,488,249 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chrNW_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700 		JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric ClinVar PMID:7493990 PMID:8707300 PMID:9450907 PMID:10319579 PMID:11388593 More... NCBI chrNW_004955412:13,880,937...13,888,562
Ensembl chrNW_004955412:13,880,937...13,888,562 		JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2 ClinVar PMID:7627180 PMID:8326489 PMID:8518287 PMID:9744478 PMID:11153907 More... NCBI chrNW_004955480:6,646,088...6,666,866
Ensembl chrNW_004955480:6,646,088...6,669,526 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827 		JBrowse link
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955409:36,279,996...36,313,824
Ensembl chrNW_004955409:36,310,932...36,313,893 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955409:36,288,402...36,296,761
Ensembl chrNW_004955409:36,288,568...36,296,828 		JBrowse link
Pseudo-Zellweger Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO ClinVar Annotator: match by term: Pseudo Zellweger syndrome ClinVar PMID:16385454 PMID:18796626 PMID:20301500 PMID:20301541 PMID:28492532 More... NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Pseudo Zellweger syndrome ClinVar PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 PMID:10497229 More... NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338 		JBrowse link
Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency ClinVar PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 More... NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771 		JBrowse link
pyruvate carboxylase deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chrNW_004955422:18,524,786...18,527,916
Ensembl chrNW_004955422:18,524,786...18,527,916 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436 		JBrowse link
pyruvate decarboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency ClinVar PMID:25741868 NCBI chrNW_004955586:5,856...99,662
Ensembl chrNW_004955586:5,345...99,534 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency OMIM
ClinVar		 PMID:1293379 PMID:1301207 PMID:1338114 PMID:1779625 PMID:1909778 More... NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541 		JBrowse link
G Pdhx pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:11,335,766...11,405,565
Ensembl chrNW_004955422:11,335,766...11,405,565 		JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO Pyruvate dehydrogenase deficiency OMIA PMID:516334 PMID:552740 PMID:7361423 PMID:15049576 PMID:17095275 NCBI chrNW_004955417:10,219,096...10,227,483
Ensembl chrNW_004955417:10,219,595...10,228,669 		JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chrNW_004955586:359,573...477,277
Ensembl chrNW_004955586:359,567...479,325 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955509:383,083...435,163
Ensembl chrNW_004955509:381,959...417,347 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955519:104,726...155,418 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955509:577,975...594,028
Ensembl chrNW_004955509:577,975...594,028 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955586:5,856...99,662
Ensembl chrNW_004955586:5,345...99,534 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955509:447,053...568,590
Ensembl chrNW_004955509:450,486...494,290 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955519:596,216...919,352
Ensembl chrNW_004955519:599,682...918,762 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 More... NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928 		JBrowse link
G Pdhx pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:11,335,766...11,405,565
Ensembl chrNW_004955422:11,335,766...11,405,565 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chrNW_004955586:597,620...761,433
Ensembl chrNW_004955586:597,164...760,136 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955519:494,463...553,839
Ensembl chrNW_004955519:494,463...553,839 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955509:600,415...701,833
Ensembl chrNW_004955509:600,284...701,837 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955519:578,343...591,299 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955519:16,839...84,226
Ensembl chrNW_004955519:3,696...84,237 		JBrowse link
G Sh3kbp1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chrNW_004955509:6,157...344,930
Ensembl chrNW_004955509:4,960...345,012 		JBrowse link
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd6 abhydrolase domain containing 6, acylglycerol lipase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:1,809,969...1,861,441
Ensembl chrNW_004955430:1,808,924...1,861,441 		JBrowse link
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:1,638,931...1,665,308
Ensembl chrNW_004955430:1,638,431...1,665,141 		JBrowse link
G Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:6,986,977...7,018,938
Ensembl chrNW_004955430:6,986,759...7,018,938 		JBrowse link
G Arf4 ARF GTPase 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:7,288,386...7,319,449 JBrowse link
G Asb14 ankyrin repeat and SOCS box containing 14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:7,014,091...7,038,751
Ensembl chrNW_004955430:7,020,823...7,038,057 		JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:7,327,602...7,396,961
Ensembl chrNW_004955430:7,327,602...7,397,670 		JBrowse link
G Dnah12 dynein axonemal heavy chain 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:7,039,070...7,272,927 JBrowse link
G Dnase1l3 deoxyribonuclease 1L3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:7,867,172...7,892,079
Ensembl chrNW_004955430:7,867,109...7,892,079 		JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:7,680,394...7,832,124
Ensembl chrNW_004955430:7,680,394...7,832,124 		JBrowse link
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:6,955,575...6,956,991
Ensembl chrNW_004955430:6,955,575...6,956,991 		JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:6,842,756...6,873,195
Ensembl chrNW_004955430:6,848,820...6,898,704 		JBrowse link
G Kctd6 potassium channel tetramerization domain containing 6 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:1,667,385...1,670,203
Ensembl chrNW_004955430:1,667,385...1,670,392 		JBrowse link
G Pde12 phosphodiesterase 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:7,272,911...7,277,726
Ensembl chrNW_004955430:7,272,765...7,277,726 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency OMIM
ClinVar		 PMID:9536098 PMID:15138885 PMID:16199547 PMID:17576681 PMID:18164639 More... NCBI chrNW_004955430:1,707,615...1,713,541
Ensembl chrNW_004955430:1,707,615...1,713,541 		JBrowse link
G Pxk PX domain containing serine/threonine kinase like ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:1,714,208...1,780,674
Ensembl chrNW_004955430:1,714,208...1,765,102 		JBrowse link
G Rpp14 ribonuclease P/MRP subunit p14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:1,794,460...1,802,527
Ensembl chrNW_004955430:1,794,460...1,802,527 		JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chrNW_004955430:7,470,823...7,620,101
Ensembl chrNW_004955430:7,471,400...7,622,459 		JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909 		JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,838,260...13,872,886
Ensembl chrNW_004955412:13,837,782...13,872,886 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,137,273...13,250,261
Ensembl chrNW_004955412:13,183,524...13,247,882 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426 		JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 More... NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,254,671...13,275,832
Ensembl chrNW_004955412:13,258,703...13,275,876 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727 		JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,282,871...13,298,214
Ensembl chrNW_004955412:13,280,327...13,297,833 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,755,704...13,765,047
Ensembl chrNW_004955412:13,755,817...13,765,047 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004955412:13,748,120...13,755,498
Ensembl chrNW_004955412:13,748,325...13,754,130 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,131,229...13,167,150
Ensembl chrNW_004955412:13,131,168...13,156,128 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,090,206...13,098,642
Ensembl chrNW_004955412:13,090,206...13,098,826 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,458,078...13,494,583
Ensembl chrNW_004955412:13,458,136...13,494,585 		JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,880,937...13,888,562
Ensembl chrNW_004955412:13,880,937...13,888,562 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932 		JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,342,032...13,458,076
Ensembl chrNW_004955412:13,342,032...13,457,563 		JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,829,637...13,834,481
Ensembl chrNW_004955412:13,831,353...13,834,481 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:13,766,532...13,768,453
Ensembl chrNW_004955412:13,766,532...13,768,453 		JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apip APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar PMID:25741868 NCBI chrNW_004955422:11,405,721...11,426,700
Ensembl chrNW_004955422:11,405,721...11,429,146 		JBrowse link
G Pdhx pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: PDHX-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency OMIM
ClinVar		 PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chrNW_004955422:11,335,766...11,405,565
Ensembl chrNW_004955422:11,335,766...11,405,565 		JBrowse link
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | ClinVar Annotator: match by term: SLC25A42-related condition OMIM
ClinVar		 PMID:25741868 PMID:26541337 PMID:28492532 PMID:29327420 PMID:29923093 More... NCBI chrNW_004955524:2,674,508...2,683,304
Ensembl chrNW_004955524:2,675,747...2,683,282 		JBrowse link
Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Phytanic acid storage disease ClinVar PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9536098 More... NCBI chrNW_004955439:71,302...138,278
Ensembl chrNW_004955439:71,302...138,278 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: PHYH-related condition | ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndrome OMIM
ClinVar		 PMID:1155634 PMID:9326939 PMID:9326940 PMID:9536098 PMID:9657395 More... NCBI chrNW_004955462:1,238,622...1,250,731
Ensembl chrNW_004955462:1,238,622...1,250,736 		JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chrNW_004955420:17,684,752...17,714,639
Ensembl chrNW_004955420:17,693,573...17,715,211 		JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: CLDN19-related condition | ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement OMIM
ClinVar		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chrNW_004955537:2,265,711...2,271,096
Ensembl chrNW_004955537:2,265,711...2,271,289 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569 		JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease OMIM
ClinVar		 NCBI chrNW_004955511:4,183,210...4,219,528
Ensembl chrNW_004955511:4,196,114...4,218,961 		JBrowse link
retinal vasculopathy with cerebral leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena | ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy ClinVar PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 More... NCBI chrNW_004955532:516,772...533,774
Ensembl chrNW_004955532:516,753...533,498 		JBrowse link
G Trex1 three prime repair exonuclease 1 susceptibility ISO ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena | ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy OMIM
ClinVar		 PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 More... NCBI chrNW_004955532:533,877...535,767
Ensembl chrNW_004955532:533,877...535,767 		JBrowse link
Saccharopinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Saccharopinuria ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955479:3,746,003...3,805,835
Ensembl chrNW_004955479:3,742,757...3,814,338 		JBrowse link
Sandhoff disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankdd1b ankyrin repeat and death domain containing 1B ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chrNW_004955425:25,094,742...25,154,497
Ensembl chrNW_004955425:25,095,890...25,153,960 		JBrowse link
G Ankrd31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chrNW_004955425:25,483,400...25,647,904
Ensembl chrNW_004955425:25,483,715...25,626,546 		JBrowse link
G Cert1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chrNW_004955425:25,228,216...25,355,597
Ensembl chrNW_004955425:25,233,556...25,357,802 		JBrowse link
G Fam169a family with sequence similarity 169 member A ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chrNW_004955425:25,814,269...25,896,371
Ensembl chrNW_004955425:25,840,274...25,892,842 		JBrowse link
G Gcnt4 glucosaminyl (N-acetyl) transferase 4 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chrNW_004955425:25,661,648...25,681,948
Ensembl chrNW_004955425:25,662,036...25,681,948 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:7550345 PMID:18758829 PMID:28492532 NCBI chrNW_004955425:25,904,020...25,942,384
Ensembl chrNW_004955425:25,904,020...25,942,376 		JBrowse link
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: GM2 gangliosidosis, type 2 | ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease OMIM
ClinVar		 PMID:10724 PMID:571983 PMID:868875 PMID:1386607 PMID:1487253 More... NCBI chrNW_004955425:25,942,341...25,961,312
Ensembl chrNW_004955425:25,942,278...25,961,312 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745 		JBrowse link
G Nsa2 NSA2 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chrNW_004955425:25,896,849...25,903,869
Ensembl chrNW_004955425:25,896,849...25,904,006 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chrNW_004955425:25,055,259...25,092,101
Ensembl chrNW_004955425:25,050,552...25,091,569 		JBrowse link
G Polk DNA polymerase kappa ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chrNW_004955425:25,164,749...25,228,064
Ensembl chrNW_004955425:25,161,222...25,228,524 		JBrowse link
Sandhoff Disease, Adult Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, adult type ClinVar PMID:571983 PMID:1386607 PMID:1531140 PMID:2147027 PMID:2948136 More... NCBI chrNW_004955425:25,942,341...25,961,312
Ensembl chrNW_004955425:25,942,278...25,961,312 		JBrowse link
Sandhoff Disease, Infantile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enc1 ectodermal-neural cortex 1 ISO ClinVar Annotator: match by term: Sandhoff disease, infantile type ClinVar PMID:7633435 NCBI chrNW_004955425:26,017,684...26,029,262
Ensembl chrNW_004955425:26,017,684...26,029,262 		JBrowse link
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, infantile type ClinVar PMID:7550345 PMID:7633435 PMID:8045559 PMID:8162015 PMID:9888387 More... NCBI chrNW_004955425:25,942,341...25,961,312
Ensembl chrNW_004955425:25,942,278...25,961,312 		JBrowse link
Sandhoff Disease, Juvenile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, juvenile type ClinVar PMID:10724 PMID:1386607 PMID:1531140 PMID:1720305 PMID:2147027 More... NCBI chrNW_004955425:25,942,341...25,961,312
Ensembl chrNW_004955425:25,942,278...25,961,312 		JBrowse link
sea-blue histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis OMIM
ClinVar		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
sialuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cgas cyclic GMP-AMP synthase ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chrNW_004955493:8,593,104...8,607,297 JBrowse link
G Ddx43 DEAD-box helicase 43 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chrNW_004955493:8,541,937...8,578,199 JBrowse link
G Eef1a1 eukaryotic translation elongation factor 1 alpha 1 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chrNW_004955493:8,661,317...8,663,190 JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Sialuria
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type		 ClinVar
OMIM		 PMID:2443758 PMID:2808337 PMID:8439453 PMID:9536098 PMID:10330343 More... NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chrNW_004955488:7,406,633...7,928,526
Ensembl chrNW_004955488:7,406,635...7,927,532 		JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chrNW_004955493:8,636,093...8,655,090
Ensembl chrNW_004955493:8,636,110...8,649,721 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:25741868 NCBI chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chrNW_004955488:6,999,128...7,196,583
Ensembl chrNW_004955488:6,936,952...7,197,022 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic acid storage disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type		 OMIM
ClinVar		 PMID:2010546 PMID:2334213 PMID:7151835 PMID:9536098 PMID:10069709 More... NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250 		JBrowse link
sphingolipidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 susceptibility ISO RGD PMID:11241842 RGD:734977 NCBI chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086 		JBrowse link
G Sumf1 sulfatase modifying factor 1 ISO Multiple Sulfatase Deficiency Disease RGD PMID:12757705 RGD:1599192 NCBI chrNW_004955421:8,982,059...9,050,936
Ensembl chrNW_004955421:8,981,211...9,049,948 		JBrowse link
Subacute Necrotizing Encephalopathy of Leigh, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:35621276 NCBI chrNW_004955407:33,288,194...33,298,817
Ensembl chrNW_004955407:33,286,178...33,299,420 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chrNW_004955412:27,293,467...27,300,522 JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25130867 PMID:25741868 PMID:28492532 PMID:33327715 PMID:33972171 NCBI chrNW_004955520:3,485,816...3,521,035
Ensembl chrNW_004955520:3,485,816...3,520,549 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G LOC102017801 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:15863660 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 More... NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556 		JBrowse link
G LOC102022268 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:23665194 PMID:23814038 PMID:25741868 PMID:28492532 PMID:39152498 NCBI chrNW_004955467:3,294,200...3,415,778
Ensembl chrNW_004955467:3,292,018...3,415,778 		JBrowse link
G LOC102030058 protein SCO1 homolog, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955467:6,519,873...6,535,321
Ensembl chrNW_004955467:6,519,873...6,537,753 		JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955441:11,012,910...11,116,965 JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955542:1,329,802...1,370,109
Ensembl chrNW_004955542:1,329,212...1,370,695 		JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:35141356 NCBI chrNW_004955405:31,607,182...31,621,538
Ensembl chrNW_004955405:31,606,924...31,621,590 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:32722639 NCBI chrNW_004955524:2,426,604...2,433,682
Ensembl chrNW_004955524:2,426,604...2,433,679 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:16200211 PMID:18180188 PMID:20818383 PMID:21364701 PMID:21924235 More... NCBI chrNW_004955446:7,345,467...7,439,885 JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 More... NCBI chrNW_004955415:23,221,084...23,263,548
Ensembl chrNW_004955415:23,221,084...23,262,073 		JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 More... NCBI chrNW_004955417:11,159,449...11,180,323
Ensembl chrNW_004955417:11,150,282...11,180,323 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955457:8,838,216...8,879,059
Ensembl chrNW_004955457:8,838,216...8,883,481 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chrNW_004955422:713,370...717,926
Ensembl chrNW_004955422:709,784...717,926 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955446:13,764,907...13,864,824
Ensembl chrNW_004955446:13,764,907...13,864,824 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... NCBI chrNW_004955495:6,540,360...6,548,072
Ensembl chrNW_004955495:6,540,450...6,547,975 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:25741868 PMID:26764160 PMID:28492532 More... NCBI chrNW_004955422:17,781,374...17,785,395
Ensembl chrNW_004955422:17,781,204...17,784,404 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chrNW_004955422:17,876,496...17,881,773
Ensembl chrNW_004955422:17,873,872...17,881,773 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:17298551 More... NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494 		JBrowse link
G Surf1 surfeit 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:2933018 PMID:10443880 PMID:22488715 PMID:23806086 PMID:24027061 More... NCBI chrNW_004955513:2,707,877...2,711,606
Ensembl chrNW_004955513:2,707,951...2,711,566 		JBrowse link
Tay-Sachs disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adpgk ADP dependent glucokinase ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,593,295...4,625,091
Ensembl chrNW_004955450:4,593,295...4,627,727 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,683,118...4,737,793
Ensembl chrNW_004955450:4,683,118...4,737,994 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,624,634...4,668,470
Ensembl chrNW_004955450:4,631,266...4,662,719 		JBrowse link
G Cd276 CD276 molecule ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:3,884,437...3,896,416 JBrowse link
G Celf6 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,822,125...4,853,572
Ensembl chrNW_004955450:4,822,125...4,855,238 		JBrowse link
G Gm2a GM2 ganglioside activator ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar NCBI chrNW_004955408:2,442,406...2,449,426
Ensembl chrNW_004955408:2,442,406...2,449,426 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,936,357...4,960,643
Ensembl chrNW_004955450:4,954,223...4,960,280 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult OMIM
ClinVar		 PMID:803011 PMID:1269177 PMID:1301189 PMID:1301190 PMID:1301937 More... NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:3,857,563...3,867,905
Ensembl chrNW_004955450:3,857,563...3,867,898 		JBrowse link
G Loxl1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:3,715,109...3,734,641
Ensembl chrNW_004955450:3,715,421...3,735,219 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:5,049,797...5,256,934
Ensembl chrNW_004955450:5,049,864...5,252,721 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,191,168...4,324,997
Ensembl chrNW_004955450:4,191,168...4,375,896 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:3,938,403...4,002,694
Ensembl chrNW_004955450:3,938,403...4,004,059 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:5,281,707...5,286,260
Ensembl chrNW_004955450:5,281,707...5,286,260 		JBrowse link
G Parp6 poly(ADP-ribose) polymerase family member 6 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,863,713...4,900,509
Ensembl chrNW_004955450:4,863,564...4,901,847 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,907,962...4,935,179
Ensembl chrNW_004955450:4,907,788...4,936,199 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,002,734...4,076,292
Ensembl chrNW_004955450:4,002,753...4,076,309 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:4,978,767...5,001,678
Ensembl chrNW_004955450:4,978,767...5,001,678 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
G Tbc1d21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chrNW_004955450:3,753,758...3,762,727
Ensembl chrNW_004955450:3,753,758...3,763,326 		JBrowse link
Tay-Sachs Disease, Juvenile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-sachs disease, juvenile ClinVar PMID:1301189 PMID:25741868 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
Tay-Sachs Disease, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant ClinVar PMID:1302612 PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 More... NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
tyrosinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Fumarylacetoacetase deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosine aminotransferase deficiency | ClinVar Annotator: match by term: Tyrosinemia ClinVar PMID:7757089 PMID:7929843 PMID:7942842 PMID:7977370 PMID:8028615 More... NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Hypertyrosinemia ClinVar PMID:25741868 PMID:30838026 NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034 		JBrowse link
G Tat tyrosine aminotransferase susceptibility ISO DNA:point mutations
ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosine aminotransferase deficiency		 RGD
ClinVar		 PMID:1357662 PMID:25741868 PMID:28492532 RGD:1600125 NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627 		JBrowse link
tyrosinemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955416:11,495,651...11,543,276
Ensembl chrNW_004955416:11,495,651...11,543,405 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955416:11,279,866...11,429,365
Ensembl chrNW_004955416:11,308,846...11,429,365 		JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955416:11,562,047...11,699,925
Ensembl chrNW_004955416:11,613,316...11,699,925 		JBrowse link
G Fah fumarylacetoacetate hydrolase treatment ISO ClinVar Annotator: match by term: Tyrosinemia type I OMIM
ClinVar
RGD		 PMID:1401056 PMID:7550234 PMID:7757089 PMID:7929843 PMID:7942842 More... RGD:14401588 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955416:11,722,388...11,731,758
Ensembl chrNW_004955416:11,722,388...11,731,758 		JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955533:823,883...895,713
Ensembl chrNW_004955533:877,985...894,934 		JBrowse link
tyrosinemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Tyrosinemia type II ClinVar PMID:7942842 PMID:8829657 PMID:9101289 PMID:9536098 PMID:14691918 More... NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730 		JBrowse link
G Tat tyrosine aminotransferase ISO ClinVar Annotator: match by term: Tyrosinemia type II OMIM
ClinVar		 PMID:1357662 PMID:9536098 PMID:9544843 PMID:16199547 PMID:16574453 More... NCBI chrNW_004955484:4,278,083...4,287,535
Ensembl chrNW_004955484:4,276,953...4,287,627 		JBrowse link
tyrosinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Tyrosinemia type III ClinVar PMID:20084589 PMID:25741868 PMID:28492532 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615 		JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: 4-Hydroxyphenylpyruvate dioxygenase deficiency | ClinVar Annotator: match by term: Tyrosinemia type III OMIM
ClinVar		 PMID:9343288 PMID:10942115 PMID:17560158 PMID:19630565 PMID:23036342 More... NCBI chrNW_004955482:6,586,975...6,595,034
Ensembl chrNW_004955482:6,586,975...6,595,034 		JBrowse link
Wilson disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Hepatolenticular degeneration ClinVar PMID:12673275 PMID:25741868 PMID:28492532 NCBI chrNW_004955442:865,292...921,739
Ensembl chrNW_004955442:865,238...922,221 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:24082139 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190 		JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955422:26,992,295...27,013,100
Ensembl chrNW_004955422:26,992,295...27,013,100 		JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:10441329 PMID:16283883 PMID:22955616 PMID:23382538 PMID:24094725 More... NCBI chrNW_004955431:5,297,477...5,320,653
Ensembl chrNW_004955431:5,297,715...5,306,590 		JBrowse link
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955405:34,701,613...35,776,076
Ensembl chrNW_004955405:34,700,551...35,775,960 		JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21751376 RGD:10053726 NCBI chrNW_004955428:18,873,782...18,907,955
Ensembl chrNW_004955428:18,873,782...18,907,955 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686180 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Asmt acetylserotonin O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955499:1,131,637...1,151,861
Ensembl chrNW_004955499:1,131,588...1,152,802 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO mRNA:increased expression:hippocampus (rat) RGD PMID:27331785 RGD:11340212 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Atp7b ATPase copper transporting beta treatment ISO ClinVar Annotator: match by term: Hepatolenticular degeneration | ClinVar Annotator: match by term: Wilson disease ClinVar
RGD
OMIM		 PMID:3 PMID:4 PMID:8 PMID:626829 PMID:671269 More... RGD:1554300 RGD:25671604 NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616 		JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855 		JBrowse link
G Camk2a calcium/calmodulin dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955415:4,247,307...4,307,402
Ensembl chrNW_004955415:4,247,014...4,307,458 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:5,166,451...5,170,263
Ensembl chrNW_004955431:5,166,451...5,170,263 		JBrowse link
G Commd1 copper metabolism domain containing 1 ISO Copper toxicosis, COMMD1-related OMIA PMID:1380748 PMID:3343179 PMID:6639527 PMID:6710813 PMID:6869968 More... NCBI chrNW_004955424:21,962,837...22,067,745
Ensembl chrNW_004955424:21,927,079...22,050,371 		JBrowse link
G Cp ceruloplasmin treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum		 RGD
CTD		 PMID:7849148 PMID:15511628 PMID:18556333 PMID:22243965 PMID:23519153 RGD:14401715 RGD:1554300 NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,585,518...4,633,567
Ensembl chrNW_004955431:4,585,466...4,636,017 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17303181 RGD:2292672 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,728,011...4,810,236
Ensembl chrNW_004955431:4,728,533...4,809,494 		JBrowse link
G LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:3348368 RGD:2307322 NCBI chrNW_004955458:5,472,404...5,477,001
Ensembl chrNW_004955458:5,472,404...5,477,001 		JBrowse link
G LOC102021956 alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G Loxl2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004955403:46,503,226...46,583,807
Ensembl chrNW_004955403:46,504,440...46,584,016 		JBrowse link
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955415:33,138,888...33,142,663
Ensembl chrNW_004955415:33,134,474...33,143,145 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955496:6,934,542...7,059,745
Ensembl chrNW_004955496:6,908,224...7,059,816 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955437:18,323,852...18,377,815
Ensembl chrNW_004955437:18,323,857...18,377,815 		JBrowse link
G Prnp prion protein (Kanno blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16831968 NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178 		JBrowse link
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:25741868 NCBI chrNW_004955439:12,551,361...12,729,500
Ensembl chrNW_004955439:12,550,273...12,839,896 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955511:6,125,966...6,139,098
Ensembl chrNW_004955511:6,125,966...6,139,098 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,694,654...4,727,080
Ensembl chrNW_004955431:4,694,654...4,727,080 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 severity ISO RGD PMID:17259995 RGD:1601345 NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26241054 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,809,405...5,086,647
Ensembl chrNW_004955431:4,912,954...5,060,304 		JBrowse link
Zellweger Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:11389485 PMID:12032265 More... NCBI chrNW_004955432:9,389,020...9,398,791 JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chrNW_004955432:9,418,480...9,461,507
Ensembl chrNW_004955432:9,418,678...9,461,419 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:2,054,867...2,060,871
Ensembl chrNW_004955422:2,055,446...2,061,729 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955444:3,811,972...3,830,666
Ensembl chrNW_004955444:3,811,973...3,830,666 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955437:8,945,842...8,964,870
Ensembl chrNW_004955437:8,947,002...8,960,371 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955432:9,461,507...9,498,099
Ensembl chrNW_004955432:9,461,797...9,467,405 		JBrowse link
Zellweger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc10 ATP binding cassette subfamily C member 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,278,977...9,297,618
Ensembl chrNW_004955437:9,280,050...9,297,314 		JBrowse link
G Abcd3 ATP binding cassette subfamily D member 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1301993 RGD:1598658 NCBI chrNW_004955423:280,497...359,711
Ensembl chrNW_004955423:280,497...359,711 		JBrowse link
G Bicral BICRA like chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,841,830...8,896,391
Ensembl chrNW_004955437:8,854,563...8,897,684 		JBrowse link
G Bysl bystin like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,257,081...8,266,627
Ensembl chrNW_004955437:8,257,081...8,266,875 		JBrowse link
G Ccnd3 cyclin D3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,266,523...8,273,855
Ensembl chrNW_004955437:8,268,118...8,273,855 		JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,930,883...8,939,869
Ensembl chrNW_004955437:8,930,885...8,939,869 		JBrowse link
G Creb3l1 cAMP responsive element binding protein 3 like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:1,702,131...1,734,603
Ensembl chrNW_004955422:1,700,692...1,734,773 		JBrowse link
G Crip3 cysteine rich protein 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,210,901...9,215,471
Ensembl chrNW_004955437:9,210,901...9,215,471 		JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,084,020...2,114,980
Ensembl chrNW_004955422:2,083,138...2,115,072 		JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,003,482...9,018,260
Ensembl chrNW_004955437:9,003,533...9,017,281 		JBrowse link
G Cul9 cullin 9 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,109,997...9,145,181
Ensembl chrNW_004955437:9,109,889...9,147,526 		JBrowse link
G CUNH6orf132 chromosome unknown C6orf132 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,337,580...8,362,873
Ensembl chrNW_004955437:8,337,919...8,362,699 		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 chrNW_004955422:1,658,237...1,687,000
Ensembl chrNW_004955422:1,657,926...1,695,404 		JBrowse link
G Dlk2 delta like non-canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,297,557...9,302,581
Ensembl chrNW_004955437:9,297,557...9,302,996 		JBrowse link
G Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,145,737...9,147,388
Ensembl chrNW_004955437:9,145,737...9,147,387 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,029,346...8,056,243
Ensembl chrNW_004955437:8,014,939...8,057,033 		JBrowse link
G Frey1 Frey regulator of sperm-oocyte fusion 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,063,253...2,063,942 JBrowse link
G Frs3 fibroblast growth factor receptor substrate 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,166,724...8,182,551
Ensembl chrNW_004955437:8,166,140...8,175,324 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004955432:9,389,020...9,398,791 JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:26669662 PMID:27779215 More... NCBI chrNW_004955437:8,944,288...8,946,642
Ensembl chrNW_004955437:8,944,047...8,946,642 		JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,414,128...9,425,671
Ensembl chrNW_004955437:9,412,934...9,424,365 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,370,553...8,382,640
Ensembl chrNW_004955437:8,376,091...8,382,640 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,384,692...8,390,946
Ensembl chrNW_004955437:8,382,299...8,390,946 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10343282 NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21888010 RGD:14747040 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265 		JBrowse link
G Klc4 kinesin light chain 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,022,873...9,036,026
Ensembl chrNW_004955437:9,023,024...9,037,238 		JBrowse link
G Klhdc3 kelch domain containing 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,989,671...8,995,845
Ensembl chrNW_004955437:8,989,671...8,995,845 		JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,045,986...2,052,086
Ensembl chrNW_004955422:2,045,986...2,050,863 		JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial ISO RGD PMID:14673138 RGD:13782195 NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366 		JBrowse link
G Lrrc73 leucine rich repeat containing 73 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,337,538...9,340,360
Ensembl chrNW_004955437:9,337,538...9,340,360 		JBrowse link
G Mad2l1bp MAD2L1 binding protein ISO ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,423,630...9,433,357 JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,064,010...2,081,681
Ensembl chrNW_004955422:2,061,851...2,082,514 		JBrowse link
G Mdfi MyoD family inhibitor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,071,054...8,081,811
Ensembl chrNW_004955437:8,069,326...8,081,866 		JBrowse link
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,987,567...8,989,616
Ensembl chrNW_004955437:8,987,567...8,989,476 		JBrowse link
G Med20 mediator complex subunit 20 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,246,335...8,256,987
Ensembl chrNW_004955437:8,246,335...8,256,986 		JBrowse link
G Mrpl2 mitochondrial ribosomal protein L2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,018,491...9,022,998
Ensembl chrNW_004955437:9,017,939...9,022,760 		JBrowse link
G Mrps10 mitochondrial ribosomal protein S10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,399,233...8,407,525
Ensembl chrNW_004955437:8,398,812...8,407,531 		JBrowse link
G Mrps18a mitochondrial ribosomal protein S18A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,448,612...9,462,874
Ensembl chrNW_004955437:9,448,612...9,462,874 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO DNA:deletions, missense mutations, nonsense mutation: exon:multiple RGD PMID:16141001 RGD:11062374 NCBI chrNW_004955419:3,632,248...3,654,367
Ensembl chrNW_004955419:3,632,220...3,654,375 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 ClinVar PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chrNW_004955432:9,418,480...9,461,507
Ensembl chrNW_004955432:9,418,678...9,461,419 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 ClinVar PMID:9536098 PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 More... NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar NCBI chrNW_004955568:174,770...183,078
Ensembl chrNW_004955568:174,770...183,624 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 More... NCBI chrNW_004955481:10,057,494...10,060,492
Ensembl chrNW_004955481:10,057,494...10,063,935 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9480815 PMID:10332040 PMID:10441568 PMID:16006427 PMID:21031596 More... NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 NCBI chrNW_004955486:2,981,026...3,129,721
Ensembl chrNW_004955486:2,980,700...3,129,721 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955422:2,054,867...2,060,871
Ensembl chrNW_004955422:2,055,446...2,061,729 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:25741868 NCBI chrNW_004955468:12,049,043...12,057,751
Ensembl chrNW_004955468:12,049,043...12,057,364 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 ClinVar PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chrNW_004955444:3,811,972...3,830,666
Ensembl chrNW_004955444:3,811,973...3,830,666 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 More... NCBI chrNW_004955454:6,097,251...6,115,430 JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:10942428 PMID:21031596 PMID:28492532 NCBI chrNW_004955436:16,918,259...16,956,242
Ensembl chrNW_004955436:16,917,008...16,956,242 		JBrowse link
G Pex39 peroxisomal biogenesis factor 39 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,912,183...8,912,733 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 Annotator: match by term: Zellweger Spectrum ClinVar PMID:10462504 PMID:17532062 PMID:18712838 PMID:20681997 PMID:21031596 More... NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chrNW_004955437:8,945,842...8,964,870
Ensembl chrNW_004955437:8,947,002...8,960,371 		JBrowse link
G Pgc progastricsin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,142,523...8,153,044
Ensembl chrNW_004955437:8,142,661...8,151,339 		JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:1,857,335...2,045,816
Ensembl chrNW_004955422:1,857,335...2,045,816 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO RGD PMID:8954107 PMID:10709665 RGD:13831312 RGD:13831337 NCBI chrNW_004955462:1,238,622...1,250,731
Ensembl chrNW_004955462:1,238,622...1,250,736 		JBrowse link
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,392,484...9,409,186
Ensembl chrNW_004955437:9,397,141...9,414,042 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591 		JBrowse link
G Ppp2r5d protein phosphatase 2 regulatory subunit B'delta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,968,517...8,987,680
Ensembl chrNW_004955437:8,968,565...8,986,654 		JBrowse link
G Prickle4 prickle planar cell polarity protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,177,451...8,182,992
Ensembl chrNW_004955437:8,179,554...8,182,790 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,784,211...8,794,789
Ensembl chrNW_004955437:8,782,183...8,795,017 		JBrowse link
G Ptcra pre T cell antigen receptor alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,920,997...8,927,354 JBrowse link
G Ptk7 protein tyrosine kinase 7 (inactive) ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,037,933...9,094,237
Ensembl chrNW_004955437:9,037,661...9,094,287 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955432:9,461,507...9,498,099
Ensembl chrNW_004955432:9,461,797...9,467,405 		JBrowse link
G Rpl7l1 ribosomal protein L7 like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,903,274...8,916,598
Ensembl chrNW_004955437:8,903,274...8,908,717 		JBrowse link
G Rrp36 ribosomal RNA processing 36 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,995,983...9,001,517
Ensembl chrNW_004955437:8,996,203...9,001,163 		JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,437,281...9,448,514
Ensembl chrNW_004955437:9,437,281...9,448,514 		JBrowse link
G Scp2 sterol carrier protein 2 ISO RGD PMID:3555624 RGD:13782196 NCBI chrNW_004955464:6,097,241...6,224,287
Ensembl chrNW_004955464:6,094,758...6,224,287 		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 chrNW_004955437:9,204,414...9,210,350
Ensembl chrNW_004955437:9,204,322...9,210,086 		JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004955422:2,130,561...2,139,145
Ensembl chrNW_004955422:2,130,453...2,139,145 		JBrowse link
G Srf serum response factor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,100,546...9,109,305
Ensembl chrNW_004955437:9,098,968...9,107,057 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,317,437...8,328,544
Ensembl chrNW_004955437:8,317,437...8,328,804 		JBrowse link
G Tbcc tubulin folding cofactor C ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,808,021...8,809,598 JBrowse link
G Tfeb transcription factor EB ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,102,241...8,141,001
Ensembl chrNW_004955437:8,098,976...8,141,001 		JBrowse link
G Tjap1 tight junction associated protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,314,472...9,337,021
Ensembl chrNW_004955437:9,314,416...9,336,420 		JBrowse link
G Tomm6 translocase of outer mitochondrial membrane 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,183,219...8,184,602
Ensembl chrNW_004955437:8,183,219...8,184,602 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:7,780,886...7,785,597
Ensembl chrNW_004955437:7,780,679...7,785,697 		JBrowse link
G Treml2 triggering receptor expressed on myeloid cells like 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:7,812,005...7,824,344 JBrowse link
G Treml4 triggering receptor expressed on myeloid cells like 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:7,827,329...7,846,406 JBrowse link
G Trerf1 transcriptional regulating factor 1 ISO ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,411,951...8,600,283
Ensembl chrNW_004955437:8,413,408...8,451,256 		JBrowse link
G Ttbk1 tau tubulin kinase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,161,880...9,195,098
Ensembl chrNW_004955437:9,165,414...9,197,612 		JBrowse link
G Ubr2 ubiquitin protein ligase E3 component n-recognin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,678,212...8,780,700
Ensembl chrNW_004955437:8,677,801...8,782,120 		JBrowse link
G Usp49 ubiquitin specific peptidase 49 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:8,187,118...8,237,910
Ensembl chrNW_004955437:8,191,236...8,198,809 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Xpo5 exportin 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396 		JBrowse link
G Yipf3 Yip1 domain family member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,342,030...9,346,315
Ensembl chrNW_004955437:9,342,030...9,346,315 		JBrowse link
G Znf318 zinc finger protein 318 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,221,417...9,259,021
Ensembl chrNW_004955437:9,229,069...9,259,021 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    Nutritional and Metabolic Diseases 6989
      disease of metabolism 6989
        inherited metabolic disorder 5528
          Metabolic Brain Diseases, Inborn 1271
            2-hydroxyglutaric aciduria + 86
            Asparagine Synthetase Deficiency 1
            CST3-related cerebral amyloid angiopathy + 3
            Defect of Tricarboxylic Acid Cycle 0
            ENCEPHALOPATHY, PORPHYRIA-RELATED 1
            Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission + 5
            Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
            Hartnup disease 1
            Hereditary Central Nervous System Demyelinating Diseases + 120
            Leigh disease + 169
            Lesch-Nyhan syndrome + 1
            Lysosomal Storage Diseases, Nervous System + 173
            MELAS syndrome + 6
            MERRF Syndrome + 2
            Menkes disease + 8
            Microphthalmia and Mental Deficiency 0
            Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
            Refsum disease + 92
            Silengo Lerone Pelizza Syndrome 0
            Wilson disease + 48
            Zellweger syndrome + 114
            adrenoleukodystrophy + 132
            branched-chain keto acid dehydrogenase kinase deficiency 33
            cerebral creatine deficiency syndrome 1 59
            galactosemia + 86
            glycine encephalopathy + 13
            homocarnosinosis 1
            homocystinuria + 80
            hyperlysinemia + 1
            maple syrup urine disease + 96
            mevalonic aciduria 5
            oculocerebrorenal syndrome + 10
            phenylketonuria + 41
            pyruvate carboxylase deficiency disease + 2
            pyruvate decarboxylase deficiency + 63
            tyrosinemia + 9
            urea cycle disorder + 79
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      nervous system disease 12348
        central nervous system disease 11070
          brain disease 10386
            Metabolic Brain Diseases 1390
              Metabolic Brain Diseases, Inborn 1271
                2-hydroxyglutaric aciduria + 86
                Asparagine Synthetase Deficiency 1
                CST3-related cerebral amyloid angiopathy + 3
                Defect of Tricarboxylic Acid Cycle 0
                ENCEPHALOPATHY, PORPHYRIA-RELATED 1
                Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission + 5
                Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
                Hartnup disease 1
                Hereditary Central Nervous System Demyelinating Diseases + 120
                Leigh disease + 169
                Lesch-Nyhan syndrome + 1
                Lysosomal Storage Diseases, Nervous System + 173
                MELAS syndrome + 6
                MERRF Syndrome + 2
                Menkes disease + 8
                Microphthalmia and Mental Deficiency 0
                Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
                Refsum disease + 92
                Silengo Lerone Pelizza Syndrome 0
                Wilson disease + 48
                Zellweger syndrome + 114
                adrenoleukodystrophy + 132
                branched-chain keto acid dehydrogenase kinase deficiency 33
                cerebral creatine deficiency syndrome 1 59
                galactosemia + 86
                glycine encephalopathy + 13
                homocarnosinosis 1
                homocystinuria + 80
                hyperlysinemia + 1
                maple syrup urine disease + 96
                mevalonic aciduria 5
                oculocerebrorenal syndrome + 10
                phenylketonuria + 41
                pyruvate carboxylase deficiency disease + 2
                pyruvate decarboxylase deficiency + 63
                tyrosinemia + 9
                urea cycle disorder + 79
paths to the root