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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
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Accession:DOID:9005627 term browser browse the term
Definition:Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Synonyms:exact_synonym: Acquired Metabolic Diseases, Brain;   Acquired Metabolic Encephalopathies;   Acquired Metabolic Encephalopathy;   Brain Disorders, Metabolic, Acquired;   Brain Metabolic Disorder;   Brain Metabolic Disorders;   CNS Metabolic Disorder;   CNS Metabolic Disorders;   CNS Metabolic Disorders, Acquired;   Central Nervous System Metabolic Disorders;   Metabolic Brain Disease;   Metabolic Brain Syndrome;   Metabolic Brain Syndrome, Acquired;   Metabolic Brain Syndromes;   Metabolic Brain Syndromes, Acquired;   Metabolic Disorder, Central Nervous System, Acquired;   Metabolic Encephalopathies;   Metabolic Encephalopathy;   Nervous System Acquired Metabolic Diseases
 primary_id: MESH:D001928
 alt_id: RDO:0001330

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Metabolic Brain Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438226 NCBI chrNW_004955483:2,467,425...2,494,416
Ensembl chrNW_004955483:2,467,425...2,494,416 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21816645 NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:hippocampus, neuron; associated with diabetes mellitus, insulin-dependent RGD PMID:15777748 RGD:1600356 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		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 		RGD
OMIA
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 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:6822454 PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 More... NCBI chrNW_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338 		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 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: MCCC2-related disorder OMIM
ClinVar		 PMID:1293382 PMID:7128647 PMID:7601257 PMID:8598650 PMID:9536098 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:1293382 PMID:8598650 PMID:9536098 PMID:9544913 PMID:11170888 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 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 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: SERAC1-related disorder | ClinVar Annotator: match by term: SERAC1-related neurological disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 More... NCBI chrNW_004955439:4,234,440...4,291,947
Ensembl chrNW_004955439:4,234,382...4,291,941 		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 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 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 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 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 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 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
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: CITRIN DEFICIENCY, ADOLESCENT OR ADULT ONSET | 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
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human) 		OMIM
ClinVar
RGD		 PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:15039298 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chrNW_004955495:7,111,271...7,124,005
Ensembl chrNW_004955495:7,111,260...7,124,291 		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 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 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 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
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 PMID:33864888 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 Psap prosaposin ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency ClinVar
OMIM		 PMID:1350885 PMID:1371116 PMID:2302219 PMID:2320574 PMID:2615292 More... NCBI chrNW_004955437:19,667,252...19,683,669
Ensembl chrNW_004955437:19,667,252...19,680,796 		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 Psap prosaposin ISO ClinVar Annotator: match by term: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency ClinVar
OMIM		 PMID:1350885 PMID:2302219 PMID:2320574 PMID:3063208 PMID:8554069 More... NCBI chrNW_004955437:19,667,252...19,683,669
Ensembl chrNW_004955437:19,667,252...19,680,796 		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 Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 PMID:28492532 PMID:37256495 NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614 		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:1301187 PMID:1301200 PMID:7707686 PMID:7833954 PMID:7981714 More... NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457 		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:7698774 PMID:8178819 PMID:8707300 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
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, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO 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: QDPR DEFICIENCY | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency OMIM
ClinVar		 PMID:1283784 PMID:2116088 PMID:7627180 PMID:7783174 PMID:8304097 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 WITH PRIMAPTERINURIA | ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | 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 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
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 ClinVar
OMIM		 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 Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM ClinVar PMID:2111708 PMID:2203258 PMID:2510307 PMID:2574186 PMID:7603530 More... NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231 		JBrowse link
central pontine myelinolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO protein:altered expression:basal part of pons: RGD PMID:24252214 RGD:8696006 NCBI chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717 		JBrowse link
G Aqp4 aquaporin 4 ISO protein:altered expression:basal part of pons: RGD PMID:24252214 RGD:8696006 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
cerebral creatine deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 condition OMIM
ClinVar		 PMID:9536098 PMID:11326334 PMID:11898126 PMID:12536364 PMID:12544242 More... NCBI chrNW_004955580:419,696...426,727
Ensembl chrNW_004955580:418,935...428,522 		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 Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Creatine deficiency, X-linked ClinVar PMID:25741868 NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: SLC6A8-related condition 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
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:10462504 PMID:17532062 PMID:20681997 PMID:25741868 PMID:26344566 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 DISEASE, DEMYELINATING, 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 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 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: Citrin deficiency | 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 Apob apolipoprotein B ISO ClinVar Annotator: match by term: Citrullinemia type I ClinVar PMID:11941481 PMID:25741868 PMID:26020417 PMID:26467025 PMID:28431867 More... NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: ASS deficiency | ClinVar Annotator: match by term: ASS1-related disorder | ClinVar Annotator: match by term: Citrullinemia type I
ClinVar Annotator: match by term: ASS deficiency | ClinVar Annotator: match by term: Citrullinemia type I
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 Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: ASS deficiency | 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: 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 oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor mitochondrial 1 ISO ClinVar Annotator: match by term: GFM1-related condition | ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 OMIM
ClinVar		 PMID:9536098 PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 More... NCBI chrNW_004955448:9,390,576...9,432,919
Ensembl chrNW_004955448:9,390,576...9,433,404 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 PMID:28492532 PMID:29075935 NCBI chrNW_004955425:25,904,020...25,942,384
Ensembl chrNW_004955425:25,904,020...25,942,376 		JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chrNW_004955453:10,089,547...10,097,634
Ensembl chrNW_004955453:10,089,547...10,097,634 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chrNW_004955414:13,410,751...13,528,014
Ensembl chrNW_004955414:13,410,741...13,528,423 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chrNW_004955583:848,166...862,360
Ensembl chrNW_004955583:848,481...866,424 		JBrowse link
combined oxidative phosphorylation deficiency 6 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 OMIM NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428 		JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation defect type 7 OMIM
ClinVar		 PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chrNW_004955482:5,594,148...5,606,508
Ensembl chrNW_004955482:5,595,919...5,597,757 		JBrowse link
combined saposin 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: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Encephalopathy due to prosaposin 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:24033266 PMID:25741868 PMID:25991456 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: 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: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency 		ClinVar
OMIM		 PMID:1350885 PMID:1371116 PMID:1689485 PMID:2019586 PMID:2066109 More... NCBI chrNW_004955437:19,667,252...19,683,669
Ensembl chrNW_004955437:19,667,252...19,680,796 		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: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | 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 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
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
Ensembl chrNW_004955403:24,315,727...24,324,732 		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 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
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:17576681 PMID:18414213 PMID:20171147 More... NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363 		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 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission ClinVar PMID:25741868 PMID:33223419 NCBI chrNW_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680 		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, lethal, due to defective mitochondrial 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, lethal, due to defective mitochondrial 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, lethal, due to defective mitochondrial 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
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
Ensembl chrNW_004955453:7,221,244...7,256,028 		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 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: Fabry disease OMIM
ClinVar		 PMID:2160973 PMID:8395937 PMID:10666480 PMID:12175777 PMID:19763152 More... NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817 		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 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
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: ASAH1-related sphingolipidosis | 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: Free sialic acid storage disease | ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) 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
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: 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
Ensembl chrNW_004955441:11,011,831...11,116,979 		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:2479670 PMID:9536098 PMID:11528398 PMID:12473753 PMID:12473780 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 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 Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar PMID:25741868 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221 		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:9326324 PMID:9536098 PMID:9538513 More... NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425 		JBrowse link
galactosemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Galactosemia ClinVar PMID:28492532 NCBI chrNW_004955472:2,604,002...2,618,033
Ensembl chrNW_004955472:2,604,002...2,618,033 		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 CTD Direct Evidence: marker/mechanism CTD PMID:7670469 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
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
Ensembl chrNW_004955408:4,058,052...4,064,185 		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
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
Ensembl chrNW_004955403:18,059,755...18,119,166 		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 Ttn titin ISO ClinVar Annotator: match by term: GD I ClinVar PMID:25741868 NCBI chrNW_004955403:18,057,344...18,328,389
Ensembl chrNW_004955403:18,059,755...18,119,166 		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 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 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
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 ClinVar
OMIM		 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-ophthalmoplegia-cardiovascular calcification syndrome 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
glutaric acidemia I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase very long chain ISO RGD PMID:15840571 RGD:10047115 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 OMIM
ClinVar		 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 PMID:8900228 More... NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615 		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: Glycine encephalopathy | 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: Glycine encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33890291 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 Annotator: match by term: Glycine encephalopathy 		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 Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Glycine encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253 		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
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:4434100 PMID:6179960 PMID:8005589 PMID:9536098 More... NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220 		JBrowse link
G Dnah5 dynein axonemal heavy chain 5 ISO ClinVar Annotator: match by term: Glycine encephalopathy 1 ClinVar PMID:11788826 PMID:16627867 PMID:25741868 PMID:28492532 NCBI chrNW_004955426:3,105,631...3,406,587
Ensembl chrNW_004955426:3,106,410...3,353,502 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Glycine encephalopathy 1 OMIM
ClinVar		 PMID:445864 PMID:1634607 PMID:9536098 PMID:10798358 PMID:10873393 More... NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002 		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
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:25741868 PMID:27481395 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 Gaa alpha glucosidase ISO 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: GAA-related disorder | ClinVar Annotator: match by term: Glycogen storage disease, type II | ClinVar Annotator: match by term: POMPE DISEASE
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: POMPE DISEASE
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: 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 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
Ensembl chrNW_004955405:37,081,022...37,090,580 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | 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 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: 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:25741868 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 Glb1 galactosidase beta 1 treatment ISO ClinVar Annotator: match by term: Beta-galactosidase 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
GM1 gangliosidosis type 1 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: 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: Gangliosidosis, generalized GM1, infantile form | 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 Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		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
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
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
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: 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
hepatic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epor erythropoietin receptor ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chrNW_004955495:2,293,587...2,299,302
Ensembl chrNW_004955495:2,293,540...2,298,715 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:15929193 RGD:6480237 NCBI chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597 		JBrowse link
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain 		CTD
RGD		 PMID:15929193 RGD:6480237 NCBI chrNW_004955443:1,126,223...1,514,291
Ensembl chrNW_004955443:1,132,860...1,514,376 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:15929193 RGD:6480237 NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244 		JBrowse link
G Gc GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11510020 PMID:11521994 RGD:5509929 NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chrNW_004955510:5,987,811...6,021,001
Ensembl chrNW_004955510:5,988,965...6,020,995 		JBrowse link
G Glul glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chrNW_004955408:7,912,223...8,226,241
Ensembl chrNW_004955408:7,912,592...8,223,570 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:23670786 RGD:10766445 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Insr insulin receptor ISO protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149 		JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529 		JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767 PMID:10206825 PMID:10564534 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO protein:increased expression:neocortex
protein:increased expression:brain
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:10206825 PMID:10564534 PMID:17083474 PMID:19763802 RGD:1642151 RGD:5132590 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Oprm1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chrNW_004955439:7,870,563...7,923,817
Ensembl chrNW_004955439:7,757,569...7,923,817 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chrNW_004955454:7,733,697...7,890,896
Ensembl chrNW_004955454:7,733,978...7,890,867 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO RGD PMID:21575628 RGD:5688266 NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305 		JBrowse link
G S100b S100 calcium binding protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:34792689 NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510 		JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO RGD PMID:30940161 RGD:14995440 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 PMID:16338762 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825 PMID:10564534 NCBI chrNW_004955413:28,309,105...28,315,075
Ensembl chrNW_004955413:28,308,658...28,315,075 		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 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 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 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
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 ClinVar
OMIM		 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 susceptibility 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
G Per3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE ClinVar PMID:25741868 NCBI chrNW_004955486:5,058,602...5,101,480
Ensembl chrNW_004955486:5,059,773...5,101,637 		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:3658675 PMID:7649538 PMID:12052859 PMID:16199547 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
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: AASS-related disorder | 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:8178819 PMID:10220141 PMID:22237589 PMID:25741868 PMID:28492532 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 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 OMIM
ClinVar		 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
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 OMIM
ClinVar		 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
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 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:26467025 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 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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 27 OMIM
ClinVar		 PMID:25741868 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 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
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: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION 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 Polr3a RNA polymerase III subunit A ISO 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: 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 PMID:16199547 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More... NCBI chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479 		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 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 Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:28492532 NCBI chrNW_004955445:10,708,147...10,722,109
Ensembl chrNW_004955445:10,709,681...10,722,264 		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
Ensembl 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 Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:19105186 PMID:25741868 PMID:28492532 NCBI chrNW_004955432:9,389,020...9,398,791
Ensembl chrNW_004955432:9,388,158...9,395,241 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile 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 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 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:9371928 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: 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: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | 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 Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:28492532 PMID:30561787 PMID:32552793 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: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE 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 Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) 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 Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:10462504 PMID:17532062 PMID:18712838 PMID:20681997 PMID:21375735 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: 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: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B 		ClinVar PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chrNW_004955437:8,945,842...8,964,870
Ensembl chrNW_004955437:8,947,002...8,960,371 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9536098 PMID:12325024 PMID:14974078 PMID:17576681 PMID:20301447 More... NCBI chrNW_004955439:71,302...138,278
Ensembl chrNW_004955439:71,302...138,278 		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 Disease | 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:9536098 More... NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250 		JBrowse link
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease, immunodeficiency, and encephalopathy OMIM
ClinVar		 PMID:9536098 PMID:16207846 PMID:17293864 PMID:17576681 PMID:18292811 More... NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		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 Galc galactosylceramidase ISO ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell 		OMIM
ClinVar		 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: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,667,252...19,683,669
Ensembl chrNW_004955437:19,667,252...19,680,796 		JBrowse link
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:8415700 PMID:9536098 PMID:15385440 PMID:15548604 PMID:16134148 More... NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098 		JBrowse link
Leigh disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Bcs1l BCS1 ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:9545407 PMID:17314340 PMID:18771761 PMID:19389488 PMID:20472482 More... NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383 		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 Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955433:15,081,390...15,094,441
Ensembl chrNW_004955433:15,081,390...15,094,441 		JBrowse link
G Cox15 cytochrome c oxidase assembly factor COX15 ISO ClinVar Annotator: match by term: Leigh syndrome 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 Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239 		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: 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 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 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:22833457 PMID:25741868 PMID:28492532 PMID:36531778 NCBI chrNW_004955465:7,878,115...8,345,749
Ensembl chrNW_004955465:7,877,824...8,241,742 		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:23993193 PMID:23993194 PMID:24033266 PMID:25558065 PMID:25741868 More... NCBI chrNW_004955411:24,757,445...24,814,642
Ensembl chrNW_004955411:24,757,445...24,814,643 		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: 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 Gfm1 G elongation factor mitochondrial 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:16199547 PMID:16632485 PMID:17160893 PMID:25741868 PMID:28492532 NCBI chrNW_004955448:9,390,576...9,432,919
Ensembl chrNW_004955448:9,390,576...9,433,404 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955425:25,904,020...25,942,384
Ensembl chrNW_004955425:25,904,020...25,942,376 		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 Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955470:5,480,279...5,492,259
Ensembl chrNW_004955470:5,480,279...5,492,250 		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: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh 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: Leigh's 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 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
Ensembl chrNW_004955441:11,011,831...11,116,979 		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 Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793 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: Leigh syndrome | 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 syndrome | ClinVar Annotator: match by term: Leigh's disease | 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 syndrome | ClinVar Annotator: match by term: Leigh's 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 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease 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: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | 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 syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh 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 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: 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 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: 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 syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's 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: Leigh's necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:15269216 PMID:17604671 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: Leigh's 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: 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 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 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 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 Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's 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 Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004955439:4,234,440...4,291,947
Ensembl chrNW_004955439:4,234,382...4,291,941 		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 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 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: Leigh's 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 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 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 Tpk1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22152682 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955491:621,941...968,570
Ensembl chrNW_004955491:623,530...968,253 		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
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 Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY ClinVar PMID:21874000 PMID:23684012 PMID:25687217 PMID:25741868 PMID:26556299 More... NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:21270786 PMID:25741868 PMID:27981572 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 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:10486093 PMID:22142326 PMID:23021068 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928 		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: HPRT DEFICIENCY, COMPLETE | 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
Ensembl chrNW_004955473:461,957...496,196 		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
Ensembl chrNW_004955473:461,957...496,196 		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 OMIM NCBI chrNW_004955470:5,480,279...5,492,259
Ensembl chrNW_004955470:5,480,279...5,492,250 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25326637 PMID:25741868 PMID:26633542 PMID:28492532 NCBI chrNW_004955413:30,440,014...30,453,860
Ensembl chrNW_004955413:30,440,282...30,453,860 		JBrowse link
maple syrup urine disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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, mild variant
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: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease 		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 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 Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561 		JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K ISO 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
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: BCKDHA-related disorder | 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:8430702 PMID:9375800 PMID:11112664 PMID:11448970 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: DBT-related disorder | 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 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 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 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
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
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
metachromatic leukodystrophy 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: ARSA 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 leukoencephalopathy
ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | 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: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A 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: 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: 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 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 Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:34529042 NCBI chrNW_004955494:318,137...349,568
Ensembl chrNW_004955494:319,738...348,511 		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 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 Psap prosaposin ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Sulfatide lipidosis
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:1689485 PMID:2066109 PMID:3063208 PMID:9536098 More... NCBI chrNW_004955437:19,667,252...19,683,669
Ensembl chrNW_004955437:19,667,252...19,680,796 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004955452:11,046,047...11,078,016
Ensembl chrNW_004955452:11,046,047...11,078,016 		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 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 ClinVar
OMIM		 PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chrNW_004955437:19,667,252...19,683,669
Ensembl chrNW_004955437:19,667,252...19,680,796 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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: Homocystinuria due to MTHFR deficiency 		ClinVar
OMIM		 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 Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 OMIM
ClinVar		 PMID:1870093 PMID:9536098 PMID:17576681 PMID:18414213 PMID:23000143 More... NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		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: 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 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: 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 homocystinemia | 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 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 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 ISO 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:23141461 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 Thap11 THAP domain containing 11 ISO OMIM 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: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: Mevalonate kinase deficiency | 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
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 complex IV deficiency nuclear type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102028200 cytochrome c oxidase assembly factor 6 homolog ISO ClinVar Annotator: match by term: COA6-related condition | ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 OMIM
ClinVar		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chrNW_004955492:5,316,594...5,324,913 JBrowse link
mitochondrial complex IV deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox15 cytochrome c oxidase assembly factor COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556 		JBrowse link
G LOC102006450 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955470:5,042,072...5,051,007
Ensembl chrNW_004955470:5,042,072...5,051,007 		JBrowse link
G LOC102028200 cytochrome c oxidase assembly factor 6 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955492:5,316,594...5,324,913 JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
mitochondrial complex IV deficiency nuclear type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox15 cytochrome c oxidase assembly factor COX15 ISO ClinVar Annotator: match by term: COX15-related condition | ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556 		JBrowse link
mitochondrial complex IV deficiency nuclear type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102006450 cytochrome c oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM
ClinVar		 PMID:21457908 NCBI chrNW_004955470:5,042,072...5,051,007
Ensembl chrNW_004955470:5,042,072...5,051,007 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 OMIM
ClinVar		 PMID:1895334 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18953340 More... NCBI chrNW_004955444:6,393,023...6,397,115
Ensembl chrNW_004955444:6,393,227...6,397,118 		JBrowse link
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: FBXL4-related condition | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM
ClinVar		 PMID:16199547 PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 More... NCBI chrNW_004955411:24,757,445...24,814,642
Ensembl chrNW_004955411:24,757,445...24,814,643 		JBrowse link
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1 mitochondrial dynamin like GTPase susceptibility ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) ClinVar
OMIM		 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ClinVar PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 More... NCBI chrNW_004955469:9,279,540...9,292,012
Ensembl chrNW_004955469:9,279,540...9,291,954 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | ClinVar Annotator: match by term: TFAM-related condition OMIM
ClinVar		 PMID:25741868 PMID:27448789 PMID:28492532 NCBI chrNW_004955425:12,106,506...12,121,625
Ensembl chrNW_004955425:12,106,877...12,120,782 		JBrowse link
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) OMIM
ClinVar		 PMID:9175742 PMID:9536098 PMID:11687800 PMID:11983456 PMID:12205643 More... NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO OMIM:251880 MouseDO NCBI chrNW_004955469:9,279,540...9,292,012
Ensembl chrNW_004955469:9,279,540...9,291,954 		JBrowse link
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chrNW_004955431:2,122,640...2,170,222
Ensembl chrNW_004955431:2,129,006...2,162,854 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | ClinVar Annotator: match by term: SUCLA2-related condition OMIM
ClinVar		 PMID:9536098 PMID:15877282 PMID:16199547 PMID:17287286 PMID:17301081 More... NCBI chrNW_004955431:1,678,720...1,737,234
Ensembl chrNW_004955431:1,676,362...1,737,489 		JBrowse link
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106146232 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chrNW_004955413:33,492,348...33,503,804
Ensembl chrNW_004955413:33,492,476...33,503,680 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency 		ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease 		OMIM
ClinVar		 PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 More... NCBI chrNW_004955417:26,949,686...26,976,976
Ensembl chrNW_004955417:26,949,686...26,976,726 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:9924029 PMID:10852545 PMID:14720311 PMID:14757860 PMID:15781193 More... NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748 		JBrowse link
mitochondrial encephalomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq7 coenzyme Q7, hydroxylase ISO protein:decreased expression:heart (mouse) RGD PMID:23255162 RGD:10402107 NCBI chrNW_004955442:3,026,458...3,033,582
Ensembl chrNW_004955442:3,025,484...3,033,582 		JBrowse link
G Dnm1l dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chrNW_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680 		JBrowse link
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955465:7,878,115...8,345,749
Ensembl chrNW_004955465:7,877,824...8,241,742 		JBrowse link
G Fbxl4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy 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 Foxred1 FAD dependent oxidoreductase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20858599 NCBI chrNW_004955412:27,293,467...27,300,522 JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 PMID:23345593 NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Mff mitochondrial fission factor ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:25558065 NCBI chrNW_004955453:7,221,244...7,256,029
Ensembl chrNW_004955453:7,221,244...7,256,028 		JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO CTD Direct Evidence: marker/mechanism CTD PMID:20598281 NCBI chrNW_004955482:5,594,148...5,606,508
Ensembl chrNW_004955482:5,595,919...5,597,757 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chrNW_004955468:12,961,873...12,971,278
Ensembl chrNW_004955468:12,961,915...12,971,095 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chrNW_004955402:2,802,366...2,818,049
Ensembl chrNW_004955402:2,800,447...2,818,375 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:mutations:cds:p.N846S, p.P587L(human) RGD PMID:12825077 RGD:8694177 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Slirp SRA stem-loop interacting RNA binding protein ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar NCBI chrNW_004955438:1,556,462...1,561,561
Ensembl chrNW_004955438:1,556,462...1,561,561 		JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chrNW_004955444:6,393,023...6,397,115
Ensembl chrNW_004955444:6,393,227...6,397,118 		JBrowse link
G Tymp thymidine phosphorylase ISO mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome,OMIM:603041;DNA:point mutation:exon:E289A RGD PMID:9924029 RGD:1601000 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748 		JBrowse link
Mitochondrial Encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 NCBI chrNW_004955412:27,293,467...27,300,522 JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 PMID:30190335 NCBI chrNW_004955468:85,681...94,300
Ensembl chrNW_004955468:83,679...95,113 		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:16199547 PMID:17576681 PMID:25125611 PMID:25393721 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, 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
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 OMIM
ClinVar		 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
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 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: CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | 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: NEUG 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 PMID:39825153 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 OMIM 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 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:8401540 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 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 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 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 Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828 		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 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 Npc1 NPC intracellular cholesterol transporter 1 ISO 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
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 		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 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 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
Niemann-Pick disease type C2 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 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 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
oculocerebrorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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
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 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 Plp1 proteolipid protein 1 ISO OMIM NCBI chrNW_004955548:781,522...797,246
Ensembl chrNW_004955548:781,015...797,935 		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 disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy | ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY
ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy 		OMIM
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
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 Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: PEX13-related disorder | 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
peroxisome biogenesis disorder 12A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) 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 Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a 		ClinVar PMID:9398847 PMID:11389485 PMID:16086329 PMID:16141001 PMID:16199547 More... NCBI chrNW_004955432:9,389,020...9,398,791
Ensembl chrNW_004955432:9,388,158...9,395,241 		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
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:10462504 PMID:17532062 PMID:17576681 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 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
peroxisome biogenesis disorder 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A | 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
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:9371928 PMID:9536098 PMID:9683594 More... NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		JBrowse link
peroxisome biogenesis disorder 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 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
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: PEX16-related disorder | 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 Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: PEX7-related disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B | ClinVar Annotator: match by term: Refsum disease, adult, 2 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
phenylketonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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: Phenylketonuria
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria
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 		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 Pts 6-pyruvoyltetrahydropterin synthase ISO DNA:point mutation:exon:R25Q, R16C RGD PMID:8178819 RGD:1601576 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
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO OMIM NCBI chrNW_004955409:36,288,402...36,296,761
Ensembl chrNW_004955409:36,288,568...36,296,828 		JBrowse link
Pompe disease, infantile-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Glycogen storage disease type II, infantile OMIM
ClinVar		 PMID:1652892 PMID:1898413 PMID:7695647 PMID:7717400 PMID:8094613 More... NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231 		JBrowse link
Pompe disease, late-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa alpha glucosidase ISO OMIM NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231 		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
pyridoxamine 5'-phosphate oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures OMIM
ClinVar		 PMID:9536098 PMID:15182361 PMID:15772097 PMID:16199547 PMID:17216302 More... NCBI chrNW_004955451:13,184,861...13,190,933
Ensembl chrNW_004955451:13,183,826...13,191,707 		JBrowse link
pyruvate carboxylase deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Pyruvate Carboxylase Deficiency Disease ClinVar PMID:21874000 PMID:23684012 PMID:25687217 PMID:25741868 PMID:26556299 More... NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645 		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 E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:26968897 NCBI chrNW_004955442:15,031,210...15,041,437
Ensembl chrNW_004955442:15,030,363...15,041,877 		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 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
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Annotator: match by term: Phytanic acid oxidase deficiency | 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 Trex1 three prime repair exonuclease 1 ISO OMIM NCBI chrNW_004955532:533,877...535,767
Ensembl chrNW_004955532:533,877...535,767 		JBrowse link
Reye syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin treatment ISO RGD PMID:25162205 RGD:14694843 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Txnip thioredoxin interacting protein ISO MouseDO NCBI chrNW_004955568:103,801...107,791
Ensembl chrNW_004955568:103,762...107,785 		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 Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease
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
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 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 ClinVar
OMIM		 PMID:8488843 PMID:8750611 PMID:9279208 PMID:9360638 PMID:9603433 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 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO 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: 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 		OMIM
ClinVar		 PMID:2443758 PMID:2479670 PMID:2808337 PMID:8439453 PMID:9536098 More... NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		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 Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Salla 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, 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 		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
TANGO2-related metabolic encephalopathy and arrythmias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: TANGO2 Deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955515:5,060,176...5,105,298
Ensembl chrNW_004955515:5,061,005...5,103,179 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: TANGO2 Deficiency | ClinVar Annotator: match by term: TANGO2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213 		JBrowse link
Tay-Sachs disease 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 ClinVar PMID:8900233 PMID:10364519 PMID:24767253 PMID:28492532 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-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 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
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
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpk1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY | ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152682 PMID:25106414 More... NCBI chrNW_004955491:621,941...968,570
Ensembl chrNW_004955491:623,530...968,253 		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: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosine aminotransferase deficiency | ClinVar Annotator: match by term: Tyrosinemia ClinVar PMID:7550234 PMID:7757089 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 Fah fumarylacetoacetate hydrolase treatment ISO ClinVar Annotator: match by term: FAH-related disorder | 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
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
Wernicke encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:8229066 RGD:405100718 NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chrNW_004955430:3,178,830...3,193,241
Ensembl chrNW_004955430:3,178,830...3,193,345 		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 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: Wilson disease
ClinVar Annotator: match by term: Hepatolenticular degeneration | ClinVar Annotator: match by term: Wilson disease 		OMIM
ClinVar
RGD		 PMID:3 PMID:4 PMID:8 PMID:671269 PMID:893844 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 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 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 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 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:12846734 PMID:14741187 PMID:15805161 PMID:21493627 PMID:25326637 More... NCBI chrNW_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301 		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 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 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 Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:24033266 PMID:25741868 PMID:28191890 PMID:28777933 PMID:29300972 More... NCBI chrNW_004955451:17,294,163...17,302,807
Ensembl chrNW_004955451:17,294,251...17,302,746 		JBrowse link
Zellweger Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 RGD
CTD		 PMID:1301993 RGD:1598658 NCBI chrNW_004955423:280,497...359,711
Ensembl chrNW_004955423:280,497...359,711 		JBrowse link
G Frs3 fibroblast growth factor receptor substrate 3 ISO ClinVar Annotator: match by term: Zellweger 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: Cerebrohepatorenal syndrome | 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:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004955432:9,389,020...9,398,791
Ensembl chrNW_004955432:9,388,158...9,395,241 		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 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 Mad2l1bp MAD2L1 binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004955437:9,423,630...9,433,357 JBrowse link
G Mrps10 mitochondrial ribosomal protein S10 ISO ClinVar Annotator: match by term: Zellweger 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 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: 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 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:9371928 PMID:9536098 PMID:9683594 PMID:9700193 PMID:10527683 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 OMIM:214100 MouseDO 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 disorder
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 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 CTD Direct Evidence: marker/mechanism CTD PMID:12851857 PMID:26319495 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 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: 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: Cerebrohepatorenal syndrome | 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: 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: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 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: Zellweger 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 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 Ptcra pre T cell antigen receptor alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chrNW_004955437:8,920,997...8,927,354
Ensembl chrNW_004955437:8,920,712...8,927,409 		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 Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Zellweger 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10315
    Nutritional and Metabolic Diseases 3328
      disease of metabolism 3328
        Metabolic Brain Diseases 404
          Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
          Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
          Ethanolaminosis 0
          INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 1
          Marchiafava-Bignami Disease 0
          Metabolic Brain Diseases, Inborn + 350
          Reye syndrome 2
          Schofer-Beetz-Bohl Syndrome 0
          TANGO2-related metabolic encephalopathy and arrythmias 2
          Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 1
          Wernicke encephalopathy 3
          central pontine myelinolysis 2
          glutaric acidemia I 2
          hepatic encephalopathy + 33
          kernicterus + 0
          mitochondrial encephalomyopathy + 31
          pyridoxamine 5'-phosphate oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 10315
    disease of anatomical entity 9813
      nervous system disease 7126
        central nervous system disease 5447
          brain disease 4981
            Metabolic Brain Diseases 404
              Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
              Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
              Ethanolaminosis 0
              INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 1
              Marchiafava-Bignami Disease 0
              Metabolic Brain Diseases, Inborn + 350
              Reye syndrome 2
              Schofer-Beetz-Bohl Syndrome 0
              TANGO2-related metabolic encephalopathy and arrythmias 2
              Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 1
              Wernicke encephalopathy 3
              central pontine myelinolysis 2
              glutaric acidemia I 2
              hepatic encephalopathy + 33
              kernicterus + 0
              mitochondrial encephalomyopathy + 31
              pyridoxamine 5'-phosphate oxidase deficiency 1
paths to the root