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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:amino acid metabolic disorder
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Accession:DOID:9252 term browser browse the term
Definition:An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. (DO)
Synonyms:exact_synonym: Amino Acid Metabolism, Inborn Error;   Amino Acid Metabolism, Inherited Disorders;   Congenital Amino Acidopathies;   Congenital Amino Acidopathy;   Inborn Amino Acidopathies;   amino acid metabolism, inborn errors;   inborn amino acid metabolism disorders;   inborn amino acidopathy;   inborn errors of amino acid metabolism;   inherited errors of amino acid metabolism
 primary_id: MESH:D000592
 xref: GARD:5793;   ICD10CM:E72.9;   ICD9CM:270;   NCI:C97090



show annotations for term's descendants           Sort by:
amino acid metabolic disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15024124 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10947204 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
JBrowse link
G Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Asl argininosuccinate lyase ISO Argininosuccinic Aciduria; DNA:mutations:multiple (human) RGD PMID:2263616 RGD:734610 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Cth cystathionine gamma-lyase ISO cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E RGD PMID:12574942 RGD:1600761 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609246 NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15651030 PMID:8651275 RGD:1601275 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:10515893 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
JBrowse link
G Gcsh glycine cleavage system protein H ISO protein:decreased activity:liver: RGD PMID:7070876 RGD:12904659 NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency RGD PMID:8440722 RGD:1599500 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO isovaleric acidemia, OMIM:243500 RGD PMID:2063866 RGD:1600039 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:7560086 PMID:8770875 NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
JBrowse link
G Nags N-acetylglutamate synthase ISO N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X RGD PMID:12594532 RGD:1600560 NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT RGD PMID:9385377 RGD:1600306 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W RGD PMID:8411997 RGD:1600331 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M RGD PMID:11055895 RGD:1600412 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
JBrowse link
G Prodh proline dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17412540 PMID:12217952 RGD:1599206 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
JBrowse link
G Psph phosphoserine phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14673469 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
JBrowse link
G Secisbp2 SECIS binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16228000 NCBI chr17:13,538,513...13,569,573
Ensembl chr17:13,538,513...13,569,523
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239, RGD:1599240 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11544277 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9804340 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
JBrowse link
2-aminoadipic 2-oxoadipic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO
ISS
ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria | ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: DHTKD1-related condition
OMIM:204750
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8069629 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23141293 More... NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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 chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)
DNA:mutations:exons:c.169G>A,c.542G>T(human)
CTD
RGD
PMID:15385440 PMID:15548604 PMID:21937992 PMID:24894778 PMID:25763823 More... RGD:13506818, RGD:13506815, RGD:13506814 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO DNA:mutations:exons:
ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 More... RGD:13506826 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
JBrowse link
2-Methylbutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase
OMIM
CTD
ClinVar
PMID:9536098 PMID:10832746 PMID:11013134 PMID:12837870 PMID:15615815 More... NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Ikzf5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr 1:186,169,108...186,188,847
Ensembl chr 1:186,170,788...186,188,834
JBrowse link
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr7a2 aldo-keto reductase family 7, member A2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909
JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,433,382...148,476,027
Ensembl chr 5:148,433,494...148,474,073
JBrowse link
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409
JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231
JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
G Cela3b chymotrypsin like elastase 3B ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
JBrowse link
G E2f2 E2F transcription factor 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,399,193...148,422,595
Ensembl chr 5:148,399,642...148,421,217
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,197,410...150,418,862
Ensembl chr 5:150,195,226...150,418,363
JBrowse link
G Eloa elongin A ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,231,600...148,246,760
Ensembl chr 5:148,231,596...148,246,765
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399
JBrowse link
G Ephb2 Eph receptor B2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
JBrowse link
G Fam43b family with sequence similarity 43, member B ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,610,656...150,613,054
Ensembl chr 5:150,611,609...150,612,601
JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:9817922 PMID:17692550 PMID:23465862 PMID:28492532 NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
JBrowse link
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388
JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar Annotator: match by term: Hydroxymethylglutaric aciduria
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2443756 PMID:6085636 PMID:7479590 PMID:8617516 PMID:8798725 More... NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
JBrowse link
G Hnrnpr heterogeneous nuclear ribonucleoprotein R ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,542,999...148,574,888
Ensembl chr 5:148,543,044...148,574,867
JBrowse link
G Hp1bp3 heterochromatin protein 1, binding protein 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,435,781...150,463,004
Ensembl chr 5:150,433,740...150,463,000
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
JBrowse link
G Htr1d 5-hydroxytryptamine receptor 1D ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,656,252...148,676,532
Ensembl chr 5:148,674,495...148,675,619
JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912
JBrowse link
G Id3 inhibitor of DNA binding 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345
JBrowse link
G Ifnlr1 interferon, lambda receptor 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,919,547...147,942,328
Ensembl chr 5:147,919,908...147,942,332
JBrowse link
G Il22ra1 interleukin 22 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296
JBrowse link
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
JBrowse link
G Kif17 kinesin family member 17 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,482,288...150,521,471
Ensembl chr 5:150,481,578...150,519,638
JBrowse link
G Lactbl1 lactamase beta like 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,862,736...148,882,108
Ensembl chr 5:148,870,245...148,879,226
JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
JBrowse link
G Luzp1 leucine zipper protein 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,706,094...148,781,616
Ensembl chr 5:148,706,138...148,781,609
JBrowse link
G Lypla2 lysophospholipase 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,198,466...148,203,062
Ensembl chr 5:148,198,439...148,203,092
JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485
JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287
JBrowse link
G Mul1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,652,812...150,661,863
Ensembl chr 5:150,652,812...150,661,863
JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274
JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719
JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Pithd1 PITH domain containing 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,205,995...148,216,490
Ensembl chr 5:148,205,998...148,217,080
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377
JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525
JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821
JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175
JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658
JBrowse link
G Pnrc2 proline-rich nuclear receptor coactivator 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,103,966...148,106,950
Ensembl chr 5:148,095,699...148,107,242
Ensembl chr 5:148,095,699...148,107,242
JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716
JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
JBrowse link
G Sh2d5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,469,738...150,480,615
Ensembl chr 5:150,467,728...150,479,955
JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259
JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,088,759...148,102,964
Ensembl chr 5:148,088,823...148,101,768
JBrowse link
G Stpg1 sperm-tail PG-rich repeat containing 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,717,084...147,769,792
Ensembl chr 5:147,726,646...147,769,788
JBrowse link
G Tcea3 transcription elongation factor A3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,476,941...148,509,452
Ensembl chr 5:148,476,941...148,509,448
JBrowse link
G Tex46 testis expressed 46 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,849,307...148,853,742
Ensembl chr 5:148,849,307...148,853,742
JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723
JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784
JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744
JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719
JBrowse link
G Vwa5b1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,792,959...150,864,849
Ensembl chr 5:150,797,322...150,852,518
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link
G Zbtb40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,216,496...149,283,746
Ensembl chr 5:149,219,677...149,254,415
JBrowse link
G Zfp46 zinc finger protein 46 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,519,398...148,529,903
Ensembl chr 5:148,520,855...148,529,459
JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc5 ATP binding cassette subfamily C member 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253
JBrowse link
G Abcf3 ATP binding cassette subfamily F member 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,340,476...80,352,211
Ensembl chr11:80,339,977...80,352,211
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912
JBrowse link
G Ap2m1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140
JBrowse link
G B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:81,141,102...81,153,206
Ensembl chr11:81,140,599...81,156,166
JBrowse link
G Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,289,702...80,290,829 JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Ece2 endothelin-converting enzyme 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,259,130...80,278,446
Ensembl chr11:80,263,162...80,278,428
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941
JBrowse link
G Fam131a family with sequence similarity 131, member A ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,211,577...80,221,527
Ensembl chr11:80,211,745...80,221,511
JBrowse link
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636
JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677
JBrowse link
G Lamp3 lysosomal-associated membrane protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:81,153,491...81,224,643
Ensembl chr11:81,193,649...81,221,784
JBrowse link
G Map6d1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,734,148...80,740,377
Ensembl chr11:80,734,148...80,740,377
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 More... NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
JBrowse link
G Mir1224 microRNA 1224 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,306,902...80,306,986
Ensembl chr11:80,306,902...80,306,986
JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
JBrowse link
G Polr2h RNA polymerase II, I and III subunit H ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,192,017...80,197,468
Ensembl chr11:80,192,032...80,197,515
Ensembl chr10:80,192,032...80,197,515
JBrowse link
G Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,248,364...80,258,991
Ensembl chr11:80,248,364...80,259,043
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Vwa5b2 von Willebrand factor A domain containing 5B2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,306,067...80,323,220
Ensembl chr11:80,306,350...80,323,220
JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency ClinVar PMID:28492532 NCBI chr 2:31,378,407...31,470,140
Ensembl chr 2:31,378,924...31,470,119
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
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 chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:9536098 PMID:11181649 PMID:16010683 PMID:16199547 PMID:16835865 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
JBrowse link
3-methylglutaconic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria ClinVar PMID:25741868 NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
3-methylglutaconic aciduria type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1
OMIM
CTD
ClinVar
PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 More... NCBI chr17:12,329,522...12,424,882
Ensembl chr17:12,329,524...12,424,896
JBrowse link
G Nfil3 nuclear factor, interleukin 3 regulated ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 ClinVar PMID:28492532 NCBI chr17:12,280,499...12,295,728
Ensembl chr17:12,280,484...12,295,858
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 ClinVar PMID:28492532 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO
ISS
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
OMIM:258501
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
OMIM
CTD
ClinVar
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
JBrowse link
G Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,748,622...155,814,186
Ensembl chr 1:155,748,652...155,814,184
JBrowse link
G Arhgef17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,230,607...155,290,163
Ensembl chr 1:155,233,168...155,290,498
JBrowse link
G Arrb1 arrestin, beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
JBrowse link
G Atg16l2 autophagy related 16-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,687,386...155,703,419
Ensembl chr 1:155,684,564...155,703,420
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
JBrowse link
G Chrdl2 chordin-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,343,201...154,370,651
Ensembl chr 1:154,343,201...154,370,640
JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link
G Coa4 cytochrome c oxidase assembly factor 4 homolog ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,882,199...154,885,445
Ensembl chr 1:154,882,155...154,888,174
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
JBrowse link
G Fam168a family with sequence similarity 168, member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220
JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539
JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
JBrowse link
G Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,679,718...153,761,452
Ensembl chr 1:153,679,718...153,761,446
JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
JBrowse link
G Klhl35 kelch-like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,767,138...153,773,550
Ensembl chr 1:153,767,970...153,773,557
JBrowse link
G Krtap5-8 keratin associated protein 5-8 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817
JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179
JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890
JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
JBrowse link
G Mir139 microRNA 139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
JBrowse link
G Mir326 microRNA 326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,896,663...154,939,285
Ensembl chr 1:154,896,663...154,939,281
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
JBrowse link
G Olr35 olfactory receptor 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,994,678...154,043,281
Ensembl chr 1:154,041,306...154,043,257
JBrowse link
G P2ry2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
JBrowse link
G P2ry6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775
JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902
JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
JBrowse link
G Plekhb1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142
JBrowse link
G Pold3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,417,893...154,456,687
Ensembl chr 1:154,418,084...154,456,665
JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,668,099...154,715,079
Ensembl chr 1:154,668,109...154,715,110
JBrowse link
G Rab6a RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,957,870...155,008,922
Ensembl chr 1:154,958,189...154,996,715
JBrowse link
G Relt RELT, TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826
JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,250,462...154,311,867
Ensembl chr 1:154,254,473...154,311,653
JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680
JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
JBrowse link
G Slco2b1 solute carrier organic anion transporter family, member 2b1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,959,288...154,007,294
Ensembl chr 1:153,959,293...154,007,353
JBrowse link
G Snord15a small nucleolar RNA, C/D box 15A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,782,788...153,782,935
Ensembl chr 1:153,782,788...153,782,935
JBrowse link
G Spcs2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,163,724...154,183,152
Ensembl chr 1:154,163,724...154,183,186
JBrowse link
G Stard10 StAR-related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,722,637...155,748,007
Ensembl chr 1:155,718,389...155,747,094
JBrowse link
G Tpbgl trophoblast glycoprotein-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,923,722...153,926,548
Ensembl chr 1:153,925,098...153,926,252
JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
JBrowse link
G Xrra1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,183,330...154,247,883
Ensembl chr 1:154,183,377...154,247,895
JBrowse link
3-methylglutaconic aciduria type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra2 HtrA serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: HTRA2-related condition
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:25531304 PMID:25741868 PMID:27208207 More... NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 ClinVar PMID:9536098 PMID:17576681 PMID:27208207 PMID:28492532 NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
JBrowse link
3-methylglutaconic aciduria type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 | ClinVar Annotator: match by term: TIMM50-related condition OMIM
ClinVar
PMID:25741868 PMID:27573165 PMID:28492532 PMID:30190335 PMID:31058414 More... NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,525,131...48,633,798
Ensembl chr 1:48,527,323...48,633,345
JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Map3k4 mitogen activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358
JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
JBrowse link
G Mrpl18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,837,169...47,841,987
Ensembl chr 1:47,836,561...47,841,987
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
G Pnldc1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
JBrowse link
G Serac1 serine active site containing 1 ISO
ISS
OMIM:614739
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
JBrowse link
G Slc22a3 solute carrier family 22 member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612
JBrowse link
G Sod2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460
JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
JBrowse link
G Tcp1 t-complex 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,829,061...47,836,809
Ensembl chr 1:47,828,652...47,836,839
JBrowse link
G Tmem181 transmembrane protein 181 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295
JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688
JBrowse link
G Wtap WT1 associated protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,665,965...47,691,067
Ensembl chr 1:47,665,965...47,691,065
JBrowse link
5-Oxoprolinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 5-Oxoprolinase deficiency
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21651516 PMID:23430506 More... NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297
JBrowse link
adenylosuccinase lyase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
JBrowse link
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1302001 PMID:1405483 PMID:3234432 PMID:6150139 PMID:7334371 More... NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Ankrd54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,614,942...110,627,739
Ensembl chr 7:110,614,951...110,627,675
JBrowse link
G Apobec3 apolipoprotein B mRNA editing enzyme catalytic subunit 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,433,789...111,453,032
Ensembl chr 7:111,433,764...111,452,922
JBrowse link
G Apol2 apolipoprotein L, 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,331,367...109,338,632
Ensembl chr 7:109,331,392...109,338,558
JBrowse link
G Apol3-ps1 apolipoprotein L3, pseudogene 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,156,746...109,175,642 JBrowse link
G Apol9a apolipoprotein L 9a ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,140,871...109,149,799
Ensembl chr 7:109,140,871...109,147,649
JBrowse link
G Atf4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
JBrowse link
G Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,824,370...110,850,702
Ensembl chr 7:110,824,375...110,850,702
JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,077,867...110,084,584
Ensembl chr 7:110,077,878...110,084,412
JBrowse link
G C7h22orf23 similar to human chromosome 22 open reading frame 23 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,704,894...110,712,485
Ensembl chr 7:110,704,894...110,712,487
JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227
JBrowse link
G Card10 caspase recruitment domain family, member 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224
JBrowse link
G Cbx6 chromobox 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,372,979...111,383,026
Ensembl chr 7:111,372,980...111,383,091
JBrowse link
G Cbx7 chromobox 7 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,216,835...111,223,305 JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050
JBrowse link
G Cdc42ep1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,395,287...110,403,203
Ensembl chr 7:110,395,332...110,403,200
JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258
JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
JBrowse link
G Cimip4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072
JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463
JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
JBrowse link
G Cyth4 cytohesin 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,152,232...110,176,726
Ensembl chr 7:110,152,272...110,176,741
JBrowse link
G Ddx17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,091,127...111,109,353
Ensembl chr 7:111,089,445...111,109,193
JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845
JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952
JBrowse link
G Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,932,736...112,934,050
Ensembl chr 7:112,932,616...112,945,537
JBrowse link
G Dnal4 dynein, axonemal, light chain 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,312,424...111,325,283
Ensembl chr 7:111,312,427...111,325,283
JBrowse link
G Eif3d eukaryotic translation initiation factor 3, subunit D ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,539,795...109,552,184
Ensembl chr 7:109,539,356...109,552,206
JBrowse link
G Eif3l eukaryotic translation initiation factor 3, subunit L ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,652,565...110,663,614
Ensembl chr 7:110,627,107...110,663,614
JBrowse link
G Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,220,293...110,272,770
Ensembl chr 7:110,225,919...110,272,433
JBrowse link
G Enthd1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,994,775...112,109,246
Ensembl chr 7:111,995,395...112,109,246
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Fam227a family with sequence similarity 227, member A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,174,362...111,216,513
Ensembl chr 7:111,174,362...111,216,483
JBrowse link
G Fam83f family with sequence similarity 83, member F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,211,164...112,240,454
Ensembl chr 7:112,211,164...112,240,452
JBrowse link
G Foxred2 FAD-dependent oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,521,761...109,538,300
Ensembl chr 7:109,521,761...109,540,874
JBrowse link
G Galr3 galanin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,603,525...110,608,429
Ensembl chr 7:110,605,226...110,607,685
JBrowse link
G Gcat glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473
JBrowse link
G Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,436,071...110,451,790
Ensembl chr 7:110,435,062...110,451,789
JBrowse link
G Grap2 GRB2-related adaptor protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,117,142...112,190,880
Ensembl chr 7:112,117,142...112,190,877
JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,248,254...111,272,705
Ensembl chr 7:111,248,254...111,272,705
JBrowse link
G H1f0 H1.0 linker histone ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,592,834...110,594,694
Ensembl chr 7:110,592,208...110,594,694
JBrowse link
G Hmox1 heme oxygenase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
JBrowse link
G Josd1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,230,318...111,244,241
Ensembl chr 7:111,230,318...111,244,652
JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151
JBrowse link
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,979,060...110,009,091
Ensembl chr 7:109,979,060...110,008,927
JBrowse link
G Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,079,236...111,089,463
Ensembl chr 7:111,079,218...111,101,600
JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
JBrowse link
G Lgals1 galectin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
JBrowse link
G Lgals2 galectin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,403,171...110,410,046
Ensembl chr 7:110,403,173...110,404,802
JBrowse link
G Maff MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851
JBrowse link
G Mb myoglobin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:108,759,903...108,767,134
Ensembl chr 7:108,759,904...108,767,383
JBrowse link
G Mchr1 melanin-concentrating hormone receptor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,761,554...112,764,746
Ensembl chr 7:112,761,554...112,764,032
JBrowse link
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr19:13,483,030...13,504,389
Ensembl chr19:13,483,066...13,504,389
JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
JBrowse link
G Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,310,810...110,328,653
Ensembl chr 7:110,310,812...110,328,653
JBrowse link
G Mgat3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,708,353...111,761,825
Ensembl chr 7:111,675,730...111,762,026
JBrowse link
G Micall1 MICAL-like 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,676,706...110,707,171
Ensembl chr 7:110,676,775...110,707,177
JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,786,630...111,802,220
Ensembl chr 7:111,786,709...111,802,220
JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923
JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141
JBrowse link
G Mrtfa myocardin related transcription factor A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,544,305...112,714,418
Ensembl chr 7:112,544,312...112,714,418
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
JBrowse link
G Nol12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,493,294...110,498,908
Ensembl chr 7:110,493,246...110,498,907
JBrowse link
G Nptxr neuronal pentraxin receptor ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,336,660...111,354,737
Ensembl chr 7:111,336,664...111,354,802
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdxp pyridoxal phosphatase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,472,515...110,477,963
Ensembl chr 7:110,472,515...110,477,963
JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871
JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460
JBrowse link
G Pick1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,796,623...110,816,850
Ensembl chr 7:110,797,117...110,816,848
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
JBrowse link
G Pvalb parvalbumin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,772,939...109,787,954
Ensembl chr 7:109,772,593...109,784,561
JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
JBrowse link
G Rasd2 RASD family, member 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr19:13,594,291...13,605,016
Ensembl chr19:13,594,291...13,605,016
JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
JBrowse link
G Rpl3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,622,255...111,627,640
Ensembl chr 7:111,621,610...111,636,468
JBrowse link
G Rps19bp1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,809,354...111,812,741
Ensembl chr 7:111,809,355...111,812,757
JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087
JBrowse link
G Sgsm3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,514,453...112,544,109
Ensembl chr 7:112,514,630...112,544,108
JBrowse link
G Sh3bp1 SH3-domain binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,457,626...110,470,201
Ensembl chr 7:110,457,710...110,470,201
JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858
JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,818,274...110,822,069
Ensembl chr 7:110,818,274...110,822,069
JBrowse link
G Slc25a17 solute carrier family 25 member 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,844,375...112,887,014
Ensembl chr 7:112,844,375...112,925,945
JBrowse link
G Smdt1 single-pass membrane protein with aspartate-rich tail 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,862,162...113,865,245
Ensembl chr 7:113,860,611...113,865,226
JBrowse link
G Snord43l1 small nucleolar RNA, C/D box 43 like 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,627,136...111,627,199
Ensembl chr 7:111,627,136...111,627,199
JBrowse link
G Snord83b small nucleolar RNA, C/D box 83B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,622,885...111,622,978
Ensembl chr 7:111,622,885...111,622,978
JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,565,293...113,570,887
Ensembl chr 7:113,565,295...113,570,872
Ensembl chr 1:113,565,295...113,570,872
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G Sstr3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,092,563...110,109,043
Ensembl chr 7:110,092,575...110,099,769
JBrowse link
G St13 ST13, Hsp70 interacting protein ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,891,007...112,925,727
Ensembl chr 7:112,844,375...112,925,945
JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,275,374...111,292,565
Ensembl chr 7:111,275,380...111,292,553
JBrowse link
G Syngr1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,635,911...111,659,341
Ensembl chr 7:111,635,918...111,659,341
JBrowse link
G Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,675,829...111,707,058
Ensembl chr 7:111,686,371...111,707,058
JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783
JBrowse link
G Tmem184b transmembrane protein 184B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,925,092...110,967,975
Ensembl chr 7:110,925,092...110,967,943
JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624
JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
JBrowse link
G Tomm22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,223,508...111,228,671
Ensembl chr 7:111,216,571...111,246,799
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474
JBrowse link
G Tst thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216
JBrowse link
G Txn2 thioredoxin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:109,496,772...109,510,378
Ensembl chr 7:109,496,761...109,510,359
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333
JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
JBrowse link
adult-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 susceptibility ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia
CTD Direct Evidence: marker/mechanism
DNA,protein:mutations,decreased expression:exons,liver:multiple
ClinVar
CTD
OMIM
RGD
PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 More... RGD:1599241, RGD:1599242 NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
JBrowse link
AGAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G C3h15orf48 similar to human chromosome 15 open reading frame 48 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006
Ensembl chr 3:109,719,897...109,724,006
JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 More... NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
OMIM
ClinVar
CTD
RGD
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... RGD:13782379 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
JBrowse link
Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:33100333 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:11115845 PMID:11214907 PMID:26785811 PMID:28041643 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:12664304 PMID:16199547 PMID:25741868 PMID:28492532 PMID:29600982 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 More... NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Tyr tyrosinase treatment ISO
IMP
DNA:missense mutation:cds:p.H420R(mouse)
ClinVar Annotator: match by term: Albinism
ClinVar
RGD
PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 More... RGD:8694353, RGD:12792973, RGD:8694355 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo IMP RGD PMID:23409244 RGD:12792973
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8651291 PMID:9345097 PMID:16199547 PMID:25741868 PMID:28041643 More... NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
alkaptonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abtb1 ankyrin repeat and BTB domain containing 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620
JBrowse link
G Acad11 acyl-CoA dehydrogenase family, member 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
JBrowse link
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
JBrowse link
G Acp3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
JBrowse link
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
JBrowse link
G Aste1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430
JBrowse link
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
JBrowse link
G C4h3orf22 similar to human chromosome 3 open reading frame 22 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175
JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cdv3 carnitine deficiency-associated gene expressed in ventricle 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192
JBrowse link
G Cfap100 cilia and flagella associated protein 100 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
JBrowse link
G Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216
JBrowse link
G Chst13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,824,022...122,837,940
Ensembl chr 4:122,824,022...122,838,019
JBrowse link
G Cnbp CCHC-type zinc finger, nucleic acid binding protein ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
JBrowse link
G Col6a5 collagen type VI alpha 5 chain ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113
JBrowse link
G Col6a6 collagen type VI alpha 6 chain ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472
JBrowse link
G Copg1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
JBrowse link
G Cpne4 copine 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068
JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
JBrowse link
G Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538
JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
JBrowse link
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
JBrowse link
G Efcab12 EF-hand calcium binding domain 12 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560
JBrowse link
G Efcc1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516
JBrowse link
G Fam162a family with sequence similarity 162, member A ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239
JBrowse link
G Fbxo40 F-box protein 40 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697
JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
JBrowse link
G Gp9 glycoprotein IX (platelet) ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
G Gtf2e1 general transcription factor IIE subunit 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942
JBrowse link
G H1f10 H1.10 linker histone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,440,515...120,441,578
Ensembl chr 4:120,440,870...120,441,448
JBrowse link
G H1f8 H1.8 linker histone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254
JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
JBrowse link
G Hcls1 hematopoietic cell specific Lyn substrate 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
JBrowse link
G Heg1 heart development protein with EGF-like domains 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO
ISS
ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: Homogentisic acidura
OMIM:203500
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1001939 PMID:1360590 PMID:2114497 PMID:8782815 PMID:9154114 More... RGD:1599472 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
JBrowse link
G Hmces 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616
JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Isy1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188
JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
JBrowse link
G Kalrn kalirin, RhoGEF kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
JBrowse link
G Kbtbd12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443
JBrowse link
G Klf15 KLF transcription factor 15 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
JBrowse link
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179
JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
JBrowse link
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Nek11 NIMA-related kinase 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Nudt16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998
JBrowse link
G Osbpl11 oxysterol binding protein-like 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
JBrowse link
G Parp14 poly (ADP-ribose) polymerase family, member 14 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
JBrowse link
G Parp9 poly (ADP-ribose) polymerase family, member 9 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
JBrowse link
G Pdia5 protein disulfide isomerase family A, member 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
JBrowse link
G Pik3r4 phosphoinositide-3-kinase, regulatory subunit 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584
JBrowse link
G Plxna1 plexin A1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196
JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
JBrowse link
G Podxl2 podocalyxin-like 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112
JBrowse link
G Polq DNA polymerase theta ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878
JBrowse link
G Rab43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,249,650...120,269,174
Ensembl chr 4:120,249,879...120,269,174
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
JBrowse link
G Rabl3 RAB, member of RAS oncogene family-like 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
JBrowse link
G Rpn1 ribophorin I ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069
JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
JBrowse link
G Sec22a SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311
JBrowse link
G Slc12a8 solute carrier family 12, member 8 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
JBrowse link
G Slc41a3 solute carrier family 41, member 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766
JBrowse link
G Slc49a4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
JBrowse link
G Stxbp5l syntaxin binding protein 5L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014
JBrowse link
G Tf transferrin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link
G Tmcc1 transmembrane and coiled-coil domain family 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620
JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094
JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
JBrowse link
G Tpra1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269
JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
JBrowse link
G Txnrd3 thioredoxin reductase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
JBrowse link
G Uroc1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
JBrowse link
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
JBrowse link
G Zxdc ZXD family zinc finger C ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496
JBrowse link
Alkaptonuric Ochronosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgd homogentisate 1, 2-dioxygenase ISO ClinVar Annotator: match by term: Alkaptonuric ochronosis ClinVar PMID:9529363 PMID:10205262 PMID:10340975 PMID:10482952 PMID:10594001 More... NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
JBrowse link
Aminoacylase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Aminoacylase 1 deficiency ClinVar PMID:25741868 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Acy1 aminoacylase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aminoacylase 1 deficiency
OMIM
CTD
ClinVar
PMID:16274666 PMID:16465618 PMID:17562838 PMID:20480396 PMID:21414403 More... NCBI chr 8:107,072,354...107,077,756
Ensembl chr 8:107,072,358...107,077,682
JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme ClinVar NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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
ISS
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria
OMIM:207900
protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:705937 PMID:1705937 PMID:2263616 PMID:3106853 PMID:9045711 More... RGD:1302509, RGD:13628399 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Crcp CGRP receptor component ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,623,968...26,659,756
Ensembl chr12:26,623,976...26,768,225
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:19224584 PMID:28492532 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
JBrowse link
G Rabgef1 RAB guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,459,190...26,503,790
Ensembl chr12:26,460,175...26,503,744
JBrowse link
G Sbds Sbds, ribosome maturation factor ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
JBrowse link
G Tmem248 transmembrane protein 248 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,430,775...26,457,105
Ensembl chr12:26,432,953...26,457,105
JBrowse link
G Tpst1 tyrosylprotein sulfotransferase 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,544,536...26,605,706
Ensembl chr12:26,544,536...26,605,704
JBrowse link
aromatic L-amino acid decarboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddc dopa decarboxylase ISO
ISS
ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase
OMIM:608643
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1357595 PMID:9536098 PMID:9789536 PMID:14991824 PMID:15079002 More... NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO
ISS
OMIM:259730
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM
MouseDO
CTD
ClinVar
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
JBrowse link
Barth syndrome 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: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria ClinVar PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria ClinVar PMID:1303182 PMID:5673160 PMID:6714978 PMID:9384614 PMID:10480214 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983
JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:126,189...130,123 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446
JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839
JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789
JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO
ISS
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II
OMIM:302060
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069
JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810
JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177
JBrowse link
Beta-Aminoisobutyric Acid, Urinary Excretion of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt2 alanine-glyoxylate aminotransferase 2 ISO ClinVar Annotator: match by term: Beta-aminoisobutyric acid, urinary excretion of ClinVar
OMIM
PMID:21572414 NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
JBrowse link
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency ClinVar PMID:25741868 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency | ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
OMIM
CTD
ClinVar
PMID:7122152 PMID:9536098 PMID:16199547 PMID:17160907 PMID:17576681 More... NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency ClinVar PMID:25741868 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
beta-ketothiolase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1346617 PMID:1373235 PMID:1627655 PMID:1715688 PMID:4690360 More... NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:25741868 PMID:31268215 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
JBrowse link
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467
JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
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:7833954 PMID:7981714 PMID:8088845 PMID:8268925 PMID:8533759 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO
ISS
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency
OMIM:261640
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 More... NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869
JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:7563095 PMID:19830588 PMID:20059486 PMID:25741868 PMID:28492532 More... NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:50,909,052...50,913,217
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
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
ISS
ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B
OMIM:233910
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9536098 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
BH4-deficient hyperphenylalaninemia C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1283784 PMID:2116088 PMID:7627180 PMID:8326489 PMID:8518287 More... NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
JBrowse link
BH4-deficient hyperphenylalaninemia D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:958615 PMID:8352282 PMID:8618906 PMID:9585615 PMID:9760199 More... NCBI chr20:29,037,545...29,044,322
Ensembl chr20:28,953,864...29,044,292
Ensembl chr20:28,953,864...29,044,292
JBrowse link
biotin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO ClinVar Annotator: match by term: Biotin deficiency ClinVar PMID:88555 PMID:9099842 PMID:9158148 PMID:11668630 PMID:12359137 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
JBrowse link
biotinidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO
ISS
ClinVar Annotator: match by term: Biotinidase deficiency | ClinVar Annotator: match by term: Late-onset biotin-responsive multiple carboxylase deficiency
OMIM:253260
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:88555 PMID:1668630 PMID:7509806 PMID:7550325 PMID:9099842 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:20083419 PMID:28492532 NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:20083419 PMID:28492532 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:25741868 NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
JBrowse link
branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907
JBrowse link
G Bckdk branched chain ketoacid dehydrogenase kinase ISO
ISS
IAGP
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
OMIM:614923
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:G369E (rat)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:17576681 PMID:22956686 PMID:25741868 PMID:26467025 More... RGD:39131293 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
JBrowse link
G Bcl7c BAF chromatin remodeling complex subunit BCL7C ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163
JBrowse link
G Cfap119 cilia and flagella associated protein 119 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,197,171...182,216,936
Ensembl chr 1:182,192,947...182,202,338
JBrowse link
G Cox6a2 cytochrome c oxidase subunit 6A2 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
JBrowse link
G Fbrs fibrosin ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,090,741...182,104,026
Ensembl chr 1:182,089,844...182,103,828
JBrowse link
G Fbxl19 F-box and leucine-rich repeat protein 19 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
JBrowse link
G Itgad integrin subunit alpha D ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,759,762...182,788,422
Ensembl chr 1:182,759,740...182,788,161
JBrowse link
G Itgam integrin subunit alpha M ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Itgax integrin subunit alpha X ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,709,653...182,740,709
Ensembl chr 1:182,719,609...182,740,698
JBrowse link
G Kat8 lysine acetyltransferase 8 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
JBrowse link
G Orai3 ORAI calcium release-activated calcium modulator 3 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,381,196...182,386,055
Ensembl chr 1:182,344,293...182,386,052
JBrowse link
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
JBrowse link
G Prr14 proline rich 14 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,083,838...182,089,330
Ensembl chr 1:182,084,126...182,089,317
JBrowse link
G Prss36 serine protease 36 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,543,085...182,561,141
Ensembl chr 1:182,543,085...182,559,280
JBrowse link
G Prss53 serine protease 53 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,494,944...182,501,607
Ensembl chr 1:182,494,955...182,500,115
JBrowse link
G Prss8 serine protease 8 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
JBrowse link
G Pycard PYD and CARD domain containing ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
JBrowse link
G Rnf40 ring finger protein 40 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,202,475...182,217,899
Ensembl chr 1:182,202,600...182,217,241
JBrowse link
G Rusf1 RUS family member 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,852,257...182,881,652
Ensembl chr 1:182,852,262...182,880,732
JBrowse link
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090
JBrowse link
G Slc5a2 solute carrier family 5 member 2 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306
JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280
JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,451,108...182,459,701
Ensembl chr 1:182,451,117...182,459,979
JBrowse link
G Tgfb1i1 transforming growth factor beta 1 induced transcript 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,828,553...182,835,465
Ensembl chr 1:182,828,544...182,837,080
JBrowse link
G Trim72 tripartite motif containing 72 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,613,753...182,621,613
Ensembl chr 1:182,613,712...182,621,606
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
JBrowse link
G Zfp629 zinc finger protein 629 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,217,499...182,258,585
Ensembl chr 1:182,210,935...182,230,016
JBrowse link
G Zfp646 zinc finger protein 646 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,485,009...182,494,961
Ensembl chr 1:182,485,949...182,494,731
JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
JBrowse link
G Zfp688 zinc finger protein 688 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,039,366...182,043,035
Ensembl chr 1:182,039,931...182,043,103
JBrowse link
G Zfp689 zinc finger protein 689 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,065,885...182,074,343
Ensembl chr 1:182,065,826...182,076,679
JBrowse link
G Zfp764l1 zinc finger protein 764 like 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,003,282...182,005,886
Ensembl chr 1:182,003,282...182,005,886
JBrowse link
Brown Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein ISO DNA:deletion:exon:699_859del (human)
ClinVar Annotator: match by term: Brown oculocutaneous albinism
ClinVar
RGD
PMID:7920637 PMID:11179026 PMID:17767372 PMID:11179026 RGD:9491819 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
Brunner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maoa monoamine oxidase A ISO
ISS
OMIM:300615
ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
PMID:8211186 PMID:9536098 PMID:11700166 PMID:17296899 PMID:17576681 More... NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
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 Cps1 carbamoyl-phosphate synthase 1 susceptibility ISO
ISS
CPS I deficiency, OMIM:237300, DNA:splice-site mutation
ClinVar Annotator: match by term: Congenital hyperammonemia, type I
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More... RGD:1600715 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
carboxypeptidase N deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpn1 carboxypeptidase N subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency
OMIM
CTD
ClinVar
PMID:7437116 PMID:12560874 PMID:24033266 NCBI chr 1:242,844,575...242,873,465
Ensembl chr 1:242,844,212...242,873,465
JBrowse link
cerebral creatine deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
JBrowse link
G Adamtsl5 ADAMTS-like 5 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,362,623...9,371,248
Ensembl chr 7:9,363,237...9,370,285
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268
JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
JBrowse link
G C7h19orf25 similar to human chromosome 19 open reading frame 25 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,390,255...9,392,383 JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204
JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818
JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656
JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818
JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,515,635...9,528,071
Ensembl chr 7:9,516,429...9,527,061
JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,531,995...9,533,705 JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486
JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,923,574...9,929,223
Ensembl chr 7:9,923,576...9,939,639
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:25741868 PMID:29654216 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,312,961...9,320,166
Ensembl chr 7:9,313,098...9,320,165
JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172
JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,325,575...9,332,705
Ensembl chr 7:9,325,488...9,332,096
JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,548,100...9,559,605
Ensembl chr 7:9,549,650...9,559,752
JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:11978605 PMID:12468279 PMID:15108290 PMID:20301745 PMID:25741868 More... NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555
JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585
JBrowse link
G Plk5 polo-like kinase 5 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,346,777...9,367,923
Ensembl chr 7:9,346,777...9,355,196
JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296
JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922
JBrowse link
G Prtn3 proteinase 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397
JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,465,180...9,482,053
Ensembl chr 7:9,465,195...9,481,966
JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512
JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597
JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738
JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932
JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr 7:9,305,042...9,309,753
Ensembl chr 7:9,305,058...9,309,750
JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070
JBrowse link
cerebral creatine deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983
JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:126,189...130,123 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446
JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839
JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789
JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO
ISS
ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency
OMIM:300352
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9384614 PMID:9536098 PMID:10480214 PMID:11326334 PMID:11748843 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069
JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810
JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177
JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22521419 PMID:23905699 PMID:24033266 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:6147717 PMID:9536098 PMID:17576681 PMID:21839423 PMID:22428995 More... NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
JBrowse link
G Lyst lysosomal trafficking regulator IAGP
ISO
ISS
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition
OMIM:214500
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More... RGD:633300 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 More... NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More... NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:22521419 PMID:23905699 PMID:24033266 PMID:25741868 PMID:26203641 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 More... NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 More... NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 More... NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24524345 PMID:25741868 PMID:28492532 NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 More... NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 More... NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 More... NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700
JBrowse link
citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Ass1 argininosuccinate synthase 1 susceptibility ISO
ISS
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
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... RGD:1599301 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575
JBrowse link
G Fubp3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,855,527...14,904,540
Ensembl chr 3:14,855,557...14,904,540
JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:9536098 PMID:10369257 PMID:11153906 PMID:11343052 PMID:11793471 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10805333 PMID:10369256 RGD:1599240, RGD:1599239 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
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 chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II ClinVar PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
JBrowse link
classic citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Citrullinemia type I OMIM
ClinVar
PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: argininosuccinate synthetase deficiency ClinVar PMID:11941481 PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I ClinVar PMID:10369257 PMID:14680984 PMID:16199547 PMID:23022256 PMID:23053473 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
CTD
OMIM
ClinVar
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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 chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
JBrowse link
combined malonic and methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9030548 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21785126 More... NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to ClinVar PMID:8968745 PMID:9934985 PMID:28492532 NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO
ISS
OMIM:219500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency
OMIM
MouseDO
CTD
ClinVar
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112
JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 More... NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO
ISS
DNA:missense mutations
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I
OMIM:220100
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO
ISS
DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition
OMIM:220100
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... RGD:737767 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
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 chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236
JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323
JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011
JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376
JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103
JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476
JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317
JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 OMIM
ClinVar
PMID:7609436 PMID:9536098 PMID:15609246 PMID:16037974 PMID:16081310 More... NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,472,832...93,474,207 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846
JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292
JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,382,456...94,387,990 JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:8004109 PMID:9361298 PMID:10102421 PMID:10207904 PMID:10848620 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047
JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559
JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892
JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730
JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250
JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506
JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864
JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576
JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641
JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466
JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111
JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850
JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818
JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451
JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151
JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772
JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331
JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941
JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694
JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244
JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306
JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,845,975...91,881,145
Ensembl chr 9:91,845,987...91,880,594
JBrowse link
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061
JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789
JBrowse link
G Ap3s2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322
JBrowse link
G Arpin actin-related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124
JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
JBrowse link
G Furin furin (paired basic amino acid cleaving enzyme) ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,184,119...134,193,281
Ensembl chr 1:134,183,696...134,219,783
JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177
JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,299,469...134,301,757
Ensembl chr 1:134,299,468...134,301,757
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20171147 More... NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315
JBrowse link
G Mesp1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
JBrowse link
G Mir9-3 microRNA 9-3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,440,049...133,440,138 JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339
JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172
JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765
JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781
JBrowse link
G Rhcg Rh family, C glycoprotein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,136,646...134,177,777
Ensembl chr 1:134,149,536...134,177,775
JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523
JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,687,254...133,737,449
Ensembl chr 1:133,687,248...133,733,630
JBrowse link
G Zfp710 zinc finger protein 710 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,966,256...134,036,593
Ensembl chr 1:134,024,267...134,036,601
JBrowse link
dicarboxylic aminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a1 solute carrier family 1 member 1 ISO
ISS
ClinVar Annotator: match by term: Dicarboxylic aminoaciduria
OMIM:222730
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
MouseDO
CTD
PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
JBrowse link
Dimethylglycine Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmgdh dimethylglycine dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency
OMIM
CTD
ClinVar
PMID:10102904 PMID:10767172 PMID:11231903 PMID:25741868 PMID:28492532 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528
JBrowse link
diphthamide deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair ClinVar PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
JBrowse link
diphthamide deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25558065 PMID:25741868 PMID:30877278 PMID:33001864 NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
JBrowse link
diphthamide deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 ClinVar
OMIM
PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
JBrowse link
familial hypertryptophanemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdo2 tryptophan 2,3-dioxygenase ISO ClinVar Annotator: match by term: Familial hypertryptophanemia ClinVar
OMIM
PMID:28285122 NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
JBrowse link
fumarase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,589,333...87,619,847
Ensembl chr13:87,589,333...87,619,847
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
JBrowse link
GABA aminotransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6148708 PMID:9536098 PMID:10407778 PMID:15642443 PMID:16199547 More... NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:25738457 PMID:28492532 NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Hapstr1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:25738457 PMID:28492532 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:25738457 PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:25738457 PMID:28492532 NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355
JBrowse link
gamma-glutamyl transpeptidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency
OMIM
CTD
ClinVar
PMID:25741868 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine OMIM
ClinVar
PMID:25741868 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
JBrowse link
glutamate-cysteine ligase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:10515893 PMID:25741868 PMID:28492532 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
JBrowse link
Glutamine Deficiency, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC | ClinVar Annotator: match by term: Glutamine deficiency, congenital | ClinVar Annotator: match by term: Glutamine synthetase deficiency, congenital systemic
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16267323 PMID:17576681 PMID:21353613 PMID:25741868 More... NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
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 chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
JBrowse link
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490
JBrowse link
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339
JBrowse link
G C8h19orf38 similar to human chromosome 19 open reading frame 38 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
JBrowse link
G Ccdc159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562
JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098
JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
JBrowse link
G Ecsit ECSIT signaling integrator ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390
JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641
JBrowse link
G Elof1 elongation factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579
JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO
ISS
ClinVar Annotator: match by term: Glutaric acidemia type I | ClinVar Annotator: match by term: Glutaric aciduria, type 1
OMIM:231670
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 More... RGD:13515124 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
JBrowse link
G Hook2 hook microtubule-tethering protein 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:7795610 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11825066 More... NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G LOC102546572 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 7:11,846,077...11,868,732
Ensembl chr 7:11,845,560...11,868,717
JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
JBrowse link
G Rab3d RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185
JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
JBrowse link
G Ralgdsl3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Spc24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310
JBrowse link
G Swsap1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:1951469 PMID:8900227 PMID:8900228 PMID:9536098 PMID:9600243 More... NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,145,264...20,148,233 JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677
JBrowse link
G Tmem205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828
JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894
JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339
JBrowse link
G Zfp653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,586,607...20,605,439
Ensembl chr 8:20,586,563...20,604,864
JBrowse link
G Zfp709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700
JBrowse link
G Zfp791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504
JBrowse link
G Zfp799 zinc finger protein 799 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798
JBrowse link
G Zfp866 zinc finger protein 866 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr16:19,653,966...19,675,968
Ensembl chr16:19,668,258...19,675,932
JBrowse link
G Zfp867 zinc finger protein 867 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr10:44,244,813...44,255,223
Ensembl chr10:44,245,880...44,255,395
JBrowse link
G Zfp873 zinc finger protein 873 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 7:7,926,951...7,959,822
Ensembl chr 7:7,926,957...7,951,803
Ensembl chr 7:7,926,957...7,951,803
JBrowse link
G Zfp878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403
JBrowse link
G Zfp951 zinc finger protein 951 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756
JBrowse link
G ZNF69l zinc finger protein 69 like ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896
JBrowse link
G Znf709l zinc finger protein 709 like ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246
JBrowse link
glutaric acidemia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sugct succinylCoA:glutarate-CoA transferase ISO
ISS
OMIM:231690
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GA III | ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency
OMIM
MouseDO
CTD
ClinVar
PMID:1909402 PMID:12555941 PMID:18926513 PMID:20818383 PMID:23893049 More... NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
JBrowse link
Glutaric Aciduria 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: Glutaric acidemia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Glutaric acidemia ClinVar PMID:25741868 NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
JBrowse link
Glutaric Aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Glutaric acidemia type 2A ClinVar PMID:9536098 PMID:16510302 PMID:17576681 PMID:18289905 PMID:23785301 More... NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
JBrowse link
glutathione synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple (human)
CTD
RGD
PMID:9215686 PMID:8896573 RGD:1302516, RGD:1599324 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
JBrowse link
glutathione synthetase deficiency of erythrocytes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5476481 PMID:8896573 PMID:9215686 PMID:11167850 PMID:15056072 More... NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
JBrowse link
glutatione synthetase deficiency with 5-oxoprolinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO OMIM NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
JBrowse link
glycine encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase susceptibility ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
DNA:missense, deletion mutations:cds: 183delC,G955C (p.D276H)(human)
DNA:missense mutation:exon:p.H42R(human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:4434100 PMID:6179960 PMID:8005589 PMID:9536098 PMID:9580775 More... RGD:1599106, RGD:11073529, RGD:12879455 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:9536098 PMID:12402263 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
JBrowse link
G Gldc glycine decarboxylase ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
OMIM:605899
DNA:deletions: :
DNA:mutation:cds: c.2607C>A(human)
CTD
ClinVar
MouseDO
RGD
PMID:660 PMID:445864 PMID:1634607 PMID:1996985 PMID:9536098 More... RGD:12904646, RGD:11062733 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:8005589 PMID:9536098 PMID:9621520 PMID:16199547 PMID:16450403 More... NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISS OMIM:605899 MouseDO NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
JBrowse link
Glycine Encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY 1 OMIM
ClinVar
PMID:26539891 PMID:28492532 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097
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:4434100 PMID:8005589 PMID:9600239 PMID:9621520 PMID:10873393 More... NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Glycine encephalopathy 2 ClinVar PMID:9621520 PMID:16450403 PMID:28492532 NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23265383 PMID:25741868 More... NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
JBrowse link
glycine N-methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnmt glycine N-methyltransferase ISO
ISS
OMIM:606664
ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency
OMIM
MouseDO
ClinVar
PMID:11596649 PMID:11810299 PMID:14739680 PMID:28492532 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
JBrowse link
Glycinuria with or without Oxalate Urolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Hyperglycinuria ClinVar PMID:19033659 NCBI chr10:39,319,062...39,357,374
Ensembl chr10:39,324,337...39,354,217
JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperglycinuria
OMIM
CTD
ClinVar
PMID:19033659 PMID:25741868 PMID:28492532 NCBI chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II ClinVar PMID:9536098 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 More... NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO ClinVar Annotator: match by term: Hyperglycinuria ClinVar PMID:19033659 PMID:25741868 PMID:28492532 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573
JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO
ISS
OMIM:214450
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Griscelli syndrome type 1
OMIM
MouseDO
CTD
ClinVar
PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849
JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
JBrowse link
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gamt guanidinoacetate N-methyltransferase ISO
ISS
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related condition
OMIM:612736
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
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 susceptibility ISO
ISS
DNA:mutations
OMIM:234500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
MouseDO
CTD
ClinVar
OMIM
RGD
PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:18484095 More... RGD:1600035 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:858207 PMID:1130176 PMID:1519651 PMID:9536098 PMID:10942115 More... NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
DNA:duplication, deletions:introns, exons: (mouse)
ClinVar
RGD
PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar
PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More... NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO DNA:deletion:intron, exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:24033266 PMID:28492532 PMID:12923531 RGD:11251756 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... RGD:1599538 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense,frameshift,insertion mutations:cds:
DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)
ClinVar
CTD
RGD
PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More... RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More... RGD:11072072 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar
CTD
RGD
PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... RGD:632833, RGD:11073544 NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:19897744 RGD:2324690 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:19897744 RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha ISS MouseDO NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS MouseDO NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISS MouseDO NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393
JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:203300 MouseDO NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 PMID:33543539 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO
ISS
DNA:duplication:exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
OMIM:203300
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... RGD:1625056 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar
PMID:25741868 PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aggf1 angiogenic factor with G patch and FHA domains 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO
ISS
OMIM:608233
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
OMIM
MouseDO
CTD
ClinVar
PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More... NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS
ISO
OMIM:608233
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
MouseDO
ClinVar
PMID:28492532 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
JBrowse link
G Crhbp corticotropin releasing hormone binding protein ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710
JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
G Lhfpl2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950
JBrowse link
G Otp orthopedia homeobox ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,108,158...26,116,359
Ensembl chr 2:26,108,163...26,116,359
JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
JBrowse link
G S100z S100 calcium binding protein Z ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,737,796...26,753,611
Ensembl chr 2:26,738,776...26,752,390
JBrowse link
G Scamp1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673
JBrowse link
G Tbca tubulin folding cofactor A ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,011,714...26,065,909
Ensembl chr 2:26,011,795...26,065,907
JBrowse link
G Wdr41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,222,797...26,273,849
Ensembl chr 2:26,224,495...26,273,836
JBrowse link
G Zbed3 zinc finger, BED-type containing 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,587,620...26,600,177
Ensembl chr 2:26,587,572...26,600,386
JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO
ISS
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
OMIM:614072
DNA:splice-site mutation:intron:1303+1G>A (human)
OMIM
ClinVar
MouseDO
RGD
PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More... RGD:11041885 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis ClinVar PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO
ISS
OMIM:614073
ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
OMIM
MouseDO
ClinVar
PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 More... NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO
ISS
OMIM:614074
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
OMIM
MouseDO
ClinVar
PMID:12548288 PMID:15296495 PMID:21833017 PMID:22995991 PMID:23607980 More... NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO
ISS
ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
OMIM:614075
OMIM
ClinVar
MouseDO
PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO
ISS
OMIM:614076
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
OMIM
MouseDO
ClinVar
PMID:12923531 PMID:23364359 PMID:25741868 PMID:28259707 PMID:28492532 More... NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO
ISS
OMIM:614077
ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
OMIM
MouseDO
ClinVar
PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO
ISS
OMIM:614171
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9
OMIM
MouseDO
ClinVar
PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More... NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
histidinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hal histidine ammonia lyase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Histidinemia | ClinVar Annotator: match by term: Increased histidine
OMIM
CTD
ClinVar
PMID:15173056 PMID:15806399 PMID:23361591 PMID:23806086 PMID:24088041 More... NCBI chr 7:28,007,449...28,037,701
Ensembl chr 7:28,006,972...28,037,701
JBrowse link
HMG-CoA synthase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO
ISS
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
OMIM:605911
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 More... NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency ClinVar NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
JBrowse link
holocarboxylase synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931
JBrowse link
G Hlcs holocarboxylase synthetase ISO DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency
CTD
ClinVar
OMIM
RGD
PMID:6133032 PMID:7842009 PMID:8319716 PMID:8541348 PMID:8817339 More... RGD:1302549 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
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 chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739
JBrowse link
G Cbs cystathionine beta synthase ISO
ISS
DNA:point mutation:exon:G307S
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:236200 | OMIM:236250
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... RGD:1600622 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362
JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844
JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526
JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,910,350...10,910,682 JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
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 chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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 chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO DNA:polymorphisms,mutations: :
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:25741868 More... RGD:5508189 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074
JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877
JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224
JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996
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 chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE
CTD
OMIM
ClinVar
PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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 chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
hydroxykynureninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Hydroxykynureninuria
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17334708 PMID:25741868 NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
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
ISS
ClinVar Annotator: match by term: Arginase deficiency
OMIM:207800
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:480013 PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 More... RGD:1599208 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27056296 NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chr 1:20,563,700...20,635,044
Ensembl chr 1:20,563,697...20,635,041
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 PMID:7649538 More... NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,557,918...41,878,622
Ensembl chr14:41,557,972...41,877,495
JBrowse link
G Chrna9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192
JBrowse link
G Fam114a1 family with sequence similarity 114, member A1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,275,693...43,346,154
Ensembl chr14:43,275,701...43,346,174
JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
JBrowse link
G Klhl5 kelch-like family member 5 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,144,254...43,206,192
Ensembl chr14:43,144,257...43,184,238
JBrowse link
G Lias lipoic acid synthetase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
OMIM
CTD
ClinVar
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
JBrowse link
G Limch1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,112,579...41,425,001
Ensembl chr14:41,114,803...41,425,191
JBrowse link
G N4bp2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,342,690...42,479,861
Ensembl chr14:42,409,510...42,483,960
JBrowse link
G Nsun7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,878,562...41,935,238
Ensembl chr14:41,879,293...41,934,949
JBrowse link
G Pds5a PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,551,653...42,651,074
Ensembl chr14:42,552,647...42,648,669
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
G Rbm47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136
Ensembl chr 3:42,893,942...42,897,136
JBrowse link
G Smim14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,783,361...42,829,762
Ensembl chr14:42,783,332...42,829,760
JBrowse link
G Tlr1 toll-like receptor 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
JBrowse link
G Tlr10 toll-like receptor 10 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917
JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
JBrowse link
G Tmem156 transmembrane protein 156 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,221,464...43,252,453
Ensembl chr14:43,223,381...43,252,449
JBrowse link
G Ube2k ubiquitin-conjugating enzyme E2K ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,658,016...42,718,899
Ensembl chr14:42,658,016...42,718,630
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:12208805 RGD:1598896 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
G Apoe apolipoprotein E treatment IEP RGD PMID:22762542 RGD:6903856 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IEP protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Bche butyrylcholinesterase IDA Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Cbs cystathionine beta synthase susceptibility IEP
ISS
ISO
mRNA:decreased expression, protein:decreased expression
OMIM:603174
ClinVar Annotator: match by term: Hyperhomocysteinemia
associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
RGD
PMID:7762555 PMID:12686134 PMID:16205833 PMID:16479318 PMID:17292331 More... RGD:1600624, RGD:40903036 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 PMID:25741868 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A IEP protein:decreased expression:heart (rat) RGD PMID:19906449 RGD:401959215 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP RGD PMID:19371338 RGD:4892572 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Ednra endothelin receptor type A IEP RGD PMID:19371338 RGD:4892572 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G F10 coagulation factor X treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
JBrowse link
G F12 coagulation factor XII treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
JBrowse link
G F2 coagulation factor II, thrombin treatment IDA RGD PMID:16046705 RGD:1601105 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:16046705 RGD:1601105 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IDA RGD PMID:25457025 RGD:13792697 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD
RGD
PMID:10459572 PMID:15226090 PMID:16317120 PMID:16397167 PMID:16411416 More... RGD:1601421, RGD:10449400 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21044172 RGD:5144149 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nppb natriuretic peptide B IEP mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:24563435 RGD:11035307 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
hyperlysinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Hyperlysinemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:934735 PMID:10775527 PMID:23570448 PMID:23890588 PMID:25741868 More... NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136
JBrowse link
hypermethioninemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypermethioninemia
CTD
ClinVar
PMID:25741868 PMID:26974671 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11596649 PMID:11810299 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO ClinVar Annotator: match by term: Deficiency of methionine adenosyltransferase | ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar Annotator: match by term: Hypermethioninemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:1527987 PMID:1683972 PMID:3812486 PMID:4421454 PMID:7229751 More... RGD:1599915 NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
JBrowse link
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase OMIM
ClinVar
PMID:9536098 PMID:15024124 PMID:16435181 PMID:16736098 PMID:16872278 More... NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
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-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency ClinVar PMID:7493990 PMID:8178819 PMID:10220141 PMID:22237589 PMID:25741868 More... NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DNAJC12-related condition | ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient
OMIM
CTD
ClinVar
PMID:9159748 PMID:25741868 PMID:28132689 PMID:28492532 PMID:28794131 More... NCBI chr20:25,246,744...25,267,508
Ensembl chr20:25,223,144...25,267,521
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 chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
JBrowse link
hyperprolinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Hyperprolinemia ClinVar NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
JBrowse link
hyperprolinemia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: Proline dehydrogenase deficiency ClinVar PMID:12217952 PMID:19736351 PMID:26978485 PMID:28492532 NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: Proline dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9536098 PMID:11510941 PMID:11891283 PMID:12217952 PMID:12525555 More... NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
JBrowse link
hyperprolinemia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr7a2 aldo-keto reductase family 7, member A2 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909
JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2624476 PMID:9536098 PMID:9700195 PMID:16199547 PMID:17576681 More... NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409
JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231
JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
G Cela3b chymotrypsin like elastase 3B ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937
JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,197,410...150,418,862
Ensembl chr 5:150,195,226...150,418,363
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399
JBrowse link
G Fam43b family with sequence similarity 43, member B ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,610,656...150,613,054
Ensembl chr 5:150,611,609...150,612,601
JBrowse link
G Hp1bp3 heterochromatin protein 1, binding protein 3 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,435,781...150,463,004
Ensembl chr 5:150,433,740...150,463,000
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912
JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345
JBrowse link
G Kif17 kinesin family member 17 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,482,288...150,521,471
Ensembl chr 5:150,481,578...150,519,638
JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485
JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287
JBrowse link
G Mul1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,652,812...150,661,863
Ensembl chr 5:150,652,812...150,661,863
JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719
JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377
JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525
JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821
JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175
JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658
JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716
JBrowse link
G Sh2d5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,469,738...150,480,615
Ensembl chr 5:150,467,728...150,479,955
JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259
JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723
JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784
JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744
JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719
JBrowse link
G Vwa5b1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:150,792,959...150,864,849
Ensembl chr 5:150,797,322...150,852,518
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link
G Zbtb40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 5:149,216,496...149,283,746
Ensembl chr 5:149,219,677...149,254,415
JBrowse link
Hypertaurinuric Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy OMIM
ClinVar
PMID:25741868 PMID:31345061 PMID:31903486 NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875
JBrowse link
HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA 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 ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia ClinVar
OMIM
PMID:25653144 NCBI chr 1:96,040,407...96,060,008
Ensembl chr 1:96,042,625...96,060,007
JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:606407
CTD
MouseDO
PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
JBrowse link
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related condition OMIM
ClinVar
PMID:24130096 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29018201 More... NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development OMIM
ClinVar
PMID:25741868 PMID:30239721 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
JBrowse link
Isobutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:9889013 PMID:12359132 PMID:15505379 PMID:16199547 More... NCBI chr 8:25,382,271...25,406,404
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
JBrowse link
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,406,563...25,415,445
Ensembl chr 8:25,406,500...25,415,445
JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985
JBrowse link
isolated sulfite oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suox sulfite oxidase ISO ClinVar Annotator: match by term: Isolated sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038
JBrowse link
isovaleric acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1310317 PMID:2063866 PMID:2318964 PMID:9536098 PMID:9665741 More... NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
JBrowse link
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmac2l distal membrane arm assembly component 2 like ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:26467025 More... NCBI chr 6:88,205,580...88,223,934
Ensembl chr 6:88,205,700...88,223,933
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO
ISS
DNA:mutation:cds:c.241A4G(p.K81E)(human)
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition
OMIM:236792
ClinVar
MouseDO
OMIM
RGD
PMID:9536098 PMID:15385440 PMID:15548604 PMID:16134148 PMID:16199547 More... RGD:13506824 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
JBrowse link
leucine-sensitive hypoglycemia of infancy 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: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8650576 PMID:8923011 PMID:9382893 PMID:9648840 PMID:10204114 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Leucine-induced hypoglycemia ClinVar PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
lysinuric protein intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G C15h14orf119 similar to human chromosome 14 open reading frame 119 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
JBrowse link
G C15h14orf93 similar to human chromosome 14 open reading frame 93 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612
JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
JBrowse link
G Cideb cell death-inducing DFFA-like effector b ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
JBrowse link
G Cma1 chymase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
JBrowse link
G Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
JBrowse link
G Ctsg cathepsin G ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
JBrowse link
G Dhrs2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
JBrowse link
G Dhrs4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
JBrowse link
G Fitm1 fat storage-inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
JBrowse link
G Gzmb granzyme B ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
JBrowse link
G Gzmf granzyme F ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
JBrowse link
G Haus4 HAUS augmin-like complex, subunit 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505
JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,263,199...29,265,716 JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316
JBrowse link
G Mdp1 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905
JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
JBrowse link
G Nfatc4 nuclear factor of activated T-cells 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
JBrowse link
G Oxa1l OXA1L, mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:18716612 NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
JBrowse link
G Ppp1r3e protein phosphatase 1, regulatory subunit 3E ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,084,736...28,085,655 JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
JBrowse link
G Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560
JBrowse link
G Slc22a17 solute carrier family 22, member 17 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO
ISS
DNA:deletion
ClinVar Annotator: match by term: Lysinuric protein intolerance | ClinVar Annotator: match by term: SLC7A7-related condition
OMIM:222700
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:9536098 PMID:9829974 PMID:10080182 PMID:10080183 PMID:10631139 More... RGD:1624296 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349
JBrowse link
G Tssk4 testis-specific serine kinase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
JBrowse link
Maleylacetoacetate Isomerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstz1 glutathione S-transferase zeta 1 ISO ClinVar Annotator: match by term: Maleylacetoacetate isomerase deficiency OMIM
ClinVar
PMID:25741868 PMID:27876694 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284
JBrowse link
maple syrup urine disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
JBrowse link
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
JBrowse link
G Bcat2 branched chain amino acid transaminase 2 ISO
ISS
OMIM:246900 | OMIM:248600 | OMIM:615135
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:14755340 PMID:14755340 RGD:1300291 NCBI chr 1:96,040,407...96,060,008
Ensembl chr 1:96,042,625...96,060,007
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease
CTD Direct Evidence: marker/mechanism
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
CTD
RGD
PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 More... RGD:737779, RGD:734637 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO
ISS
DNA:deletion mutation:exon 1;
ClinVar Annotator: match by term: Maple syrup urine disease
OMIM:246900 | OMIM:248600 | OMIM:615135
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
ClinVar
MouseDO
RGD
PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 More... RGD:1599466 NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812
JBrowse link
G Bckdk branched chain ketoacid dehydrogenase kinase ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar PMID:25741868 PMID:35205278 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
JBrowse link
G C1h19orf47 similar to human chromosome 19 open reading frame 47 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
G Cdc14a cell division cycle 14A ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
JBrowse link
G Ceacam4 CEA cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
JBrowse link
G Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
JBrowse link
G Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO
ISS
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease
OMIM:246900 | OMIM:248600 | OMIM:615135
ClinVar
MouseDO
PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 More... NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609
JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
JBrowse link
G Dmrtc2 DMRT-like family C2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
JBrowse link
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,538,274...83,539,599 JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Erich4 glutamate-rich 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
JBrowse link
G Extl2 exostosin-like glycosyltransferase 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:203,922,217...203,946,940
Ensembl chr 2:203,922,187...203,943,653
JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
JBrowse link
G Gpr88 G-protein coupled receptor 88 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,191,443...204,199,576
Ensembl chr 2:204,191,427...204,199,733
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
JBrowse link
G Hmgn3 high mobility group nucleosomal binding domain 3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 NCBI chr 8:84,022,493...84,059,329
Ensembl chr 8:84,022,495...84,062,976
JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
JBrowse link
G Lgals5 galectin 5 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
JBrowse link
G Lrrc39 leucine rich repeat containing 39 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,516,122...204,535,463
Ensembl chr 2:204,516,123...204,535,463
JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
JBrowse link
G Map3k10 mitogen activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
G Mfsd14a major facilitator superfamily domain containing 14A ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,579,174...204,611,600
Ensembl chr 2:204,579,174...204,659,319
JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
JBrowse link
G Numbl NUMB-like, endocytic adaptor protein ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K ISO
ISS
OMIM:246900 | OMIM:248600 | OMIM:615135
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:23086801 PMID:28492532 NCBI chr 4:87,612,198...87,638,993
Ensembl chr 4:87,612,204...87,636,152
JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
JBrowse link
G Rtca RNA 3'-terminal phosphate cyclase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,455,175...204,476,450
Ensembl chr 2:204,455,175...204,476,460
JBrowse link
G S1pr1 sphingosine-1-phosphate receptor 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
JBrowse link
G Sass6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,546,660...204,578,930
Ensembl chr 2:204,546,660...204,578,927
JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
JBrowse link
G Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564
JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132
JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
JBrowse link
G Trmt13 tRNA methyltransferase 13 homolog ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,533,630...204,547,711
Ensembl chr 2:204,533,632...204,546,843
JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
JBrowse link
G Ttk Ttk protein kinase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 NCBI chr 8:84,754,329...84,792,653
Ensembl chr 8:84,754,315...84,792,651
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
JBrowse link
G Znf780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
JBrowse link
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease type 1A OMIM
ClinVar
PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 More... NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
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: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB | ClinVar Annotator: match by term: Maple syrup urine disease type 1B ClinVar
OMIM
PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:11112664 More... NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812
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: Intermediate maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease, thiamine-responsive, type II OMIM
ClinVar
PMID:1847055 PMID:1943690 PMID:1990841 PMID:2010537 PMID:8430702 More... NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609
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 chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
JBrowse link
G Psph phosphoserine phosphatase IEP RGD PMID:7201630 RGD:2308873 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mthfr methylenetetrahydrofolate reductase 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
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
Methylmalonate Semialdehyde Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency
OMIM
CTD
ClinVar
PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency ClinVar PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071
JBrowse link
methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia
CTD
ClinVar
PMID:9030548 PMID:21785126 PMID:21841779 PMID:22421630 PMID:25741868 More... NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
JBrowse link
G Cavin1 caveolae associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:16697227 PMID:16752391 PMID:17823972 PMID:25741868 PMID:25763508 More... NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484
JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 More... NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:9536098 PMID:12471062 PMID:15523652 PMID:15781192 PMID:16199547 More... NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia
CTD
ClinVar
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 More... NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Septin11 septin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853
JBrowse link
G Septin2 septin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170
JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Hcfc1 host cell factor C1 ISO
ISS
OMIM:309541
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
OMIM
MouseDO
CTD
ClinVar
PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
methylmalonic acidemia cblA type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,448,572...30,710,315
Ensembl chr19:30,448,637...30,710,313
JBrowse link
G C19h4orf51 similar to human chromosome 4 open reading frame 51 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:28,669,044...28,704,512
Ensembl chr19:28,669,059...28,704,508
JBrowse link
G Ednra endothelin receptor type A ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Lsm6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:29,098,254...29,112,858
Ensembl chr13:42,114,032...42,116,484
Ensembl chr19:42,114,032...42,116,484
JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 More... NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Pou4f2 POU class 4 homeobox 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:29,486,686...29,490,327
Ensembl chr19:29,486,686...29,490,327
JBrowse link
G Prmt9 protein arginine methyltransferase 9 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,376,342...30,414,491
Ensembl chr19:30,380,124...30,414,458
JBrowse link
G Slc10a7 solute carrier family 10, member 7 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
JBrowse link
G Tmem184c transmembrane protein 184C ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:30,345,183...30,361,275
Ensembl chr19:30,345,290...30,361,269
JBrowse link
G Ttc29 tetratricopeptide repeat domain 29 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615
JBrowse link
G Zfp827 zinc finger protein 827 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr19:28,720,568...28,887,381
Ensembl chr19:28,721,021...28,887,191
JBrowse link
methylmalonic acidemia cblB type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 More... NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type ClinVar PMID:15781192 PMID:16199547 PMID:16410054 PMID:20556797 PMID:23707710 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
JBrowse link
methylmalonic acidemia due to transcobalamin receptor defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd320 CD320 molecule ISO
ISS
ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect
OMIM:613646
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34978764 NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 6:45,103,838...45,179,040
Ensembl chr 6:45,061,553...45,178,046
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 chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO
ISS
ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria 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:277400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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 chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
JBrowse link
G Thap11 THAP domain containing 11 ISS OMIM:277400 MouseDO NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
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 Mmadhc metabolism of cobalamin associated D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2
OMIM
CTD
ClinVar
PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771
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 chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col19a1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106
JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF | ClinVar Annotator: match by term: VITAMIN B12 STORAGE DISEASE
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
CTD
ClinVar
OMIM
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
JBrowse link
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:25085752 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27720647 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Mmut methylmalonyl-CoA mutase treatment ISO
ISS
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
OMIM:251000
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 More... RGD:13208535, RGD:13208534, RGD:11526224 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
Methylmalonyl-CoA Epimerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Ankrd53 ankyrin repeat domain 53 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,245,561...116,253,018
Ensembl chr 4:116,246,955...116,253,017
JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
G Aup1 AUP1, lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,560,274...115,563,346
Ensembl chr 4:115,560,261...115,563,346
JBrowse link
G Bola3 bolA family member 3 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797
JBrowse link
G C1h2orf78 similar to human chromosome 2 open reading frame 78 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 1:92,743,788...92,752,219
Ensembl chr 1:92,746,607...92,752,133
JBrowse link
G C4h2orf81 similar to human chromosome 2 open reading frame 81 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,661,617...115,667,929
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Ccdc142 coiled-coil domain containing 142 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,606,151...115,616,223
Ensembl chr 4:115,608,485...115,616,216
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
JBrowse link
G Cd207 CD207 molecule ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,155,229...116,161,587
Ensembl chr 4:116,155,212...116,161,518
JBrowse link
G Clec4f C-type lectin domain family 4, member F ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,129,023...116,138,744
Ensembl chr 4:116,129,023...116,138,775
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
JBrowse link
G Dok1 docking protein 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,537,453...115,540,464
Ensembl chr 4:115,537,462...115,540,465
JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590
JBrowse link
G Dusp11 dual specificity phosphatase 11 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,367,673...118,385,183
Ensembl chr 4:118,368,053...118,385,181
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613
JBrowse link
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180
JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406
JBrowse link
G Figla folliculogenesis specific bHLH transcription factor ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,432,517...118,436,846
Ensembl chr 4:118,432,765...118,436,690
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
JBrowse link
G Ino80b INO80 complex subunit B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,627,907...115,631,069
Ensembl chr 4:115,627,908...115,631,456
JBrowse link
G Lbx2 ladybird homeobox 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,591,974...115,593,859
Ensembl chr 4:115,591,974...115,594,132
JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16697227 PMID:16752391 PMID:17823972 PMID:22522443 PMID:23542699 More... NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484
JBrowse link
G Mob1a MOB kinase activator 1A ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,831,581...115,848,561
Ensembl chr 4:115,831,551...115,848,561
JBrowse link
G Mogs mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,621,623...115,625,026
Ensembl chr 4:115,621,623...115,625,032
JBrowse link
G Mphosph10 M-phase phosphoprotein 10 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 1:117,948,134...117,964,149
Ensembl chr 1:117,948,134...117,964,149
JBrowse link
G Mrpl53 mitochondrial ribosomal protein L53 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,615,329...115,616,219 JBrowse link
G Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,811,135...115,822,663
Ensembl chr 4:115,811,139...115,822,608
JBrowse link
G Nagk N-acetylglucosamine kinase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137
JBrowse link
G Nat8 N-acetyltransferase 8 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,279,521...118,284,671
Ensembl chr 4:118,270,954...118,281,763
JBrowse link
G Nat8b N-acetyltransferase 8B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,359,445...118,364,351
Ensembl chr 4:118,359,443...118,363,563
JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402
JBrowse link
G Paip2b poly(A) binding protein interacting protein 2B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,292,001...116,323,387
Ensembl chr 4:116,292,020...116,323,379
JBrowse link
G Pcgf1 polycomb group ring finger 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,576,165...115,587,019
Ensembl chr 4:115,583,867...115,587,008
JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886
JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741
JBrowse link
G Rtkn rhotekin ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,640,813...115,657,952
Ensembl chr 4:115,640,774...115,657,952
JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794
JBrowse link
G Slc4a5 solute carrier family 4 member 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,710,101...115,810,330
Ensembl chr 4:115,725,592...115,810,323
JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
JBrowse link
G Stambp Stam binding protein ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
JBrowse link
G Tex261 testis expressed 261 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,253,547...116,260,730
Ensembl chr 4:116,244,600...116,260,253
JBrowse link
G Tlx2 T-cell leukemia homeobox 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,573,736...115,576,097
Ensembl chr 4:115,573,799...115,575,642
JBrowse link
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
JBrowse link
G Vax2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,195,528...116,219,597
Ensembl chr 4:116,195,528...116,219,594
JBrowse link
G Wbp1 WW domain binding protein 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,625,168...115,627,567
Ensembl chr 4:115,625,168...115,627,624
JBrowse link
G Wdr54 WD repeat domain 54 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,654,968...115,677,979
Ensembl chr 4:115,654,968...115,661,562
JBrowse link
G Zfp638 zinc finger protein 638 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,355,934...116,475,051
Ensembl chr 4:116,402,428...116,479,845
JBrowse link
mitochondrial DNA depletion syndrome 5 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: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO
ISS
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)
OMIM:612073
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:15877282 PMID:16199547 PMID:17287286 PMID:17301081 More... NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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 chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
multiple acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd33 CD33 molecule ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:93,935,418...93,940,452
Ensembl chr 1:93,930,971...93,950,149
JBrowse link
G Cldnd2 claudin domain containing 2 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:93,848,533...93,851,693
Ensembl chr 1:93,848,533...93,851,217
JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency
OMIM
CTD
ClinVar
PMID:1430199 PMID:1882842 PMID:9334218 PMID:9536098 PMID:12486872 More... NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
JBrowse link
G Etfb electron transfer flavoprotein subunit beta ISO ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7912128 PMID:9350306 PMID:9536098 PMID:12706375 PMID:12815589 More... NCBI chr 1:93,851,908...93,866,072
Ensembl chr 1:93,851,858...93,866,068
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3126856 PMID:7173260 PMID:7757062 PMID:9536098 PMID:12359134 More... NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:25741868 PMID:27259049 PMID:28492532 PMID:30982706 PMID:31392824 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
JBrowse link
G Iglon5 IgLON family member 5 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:93,880,906...93,898,929
Ensembl chr 1:93,881,991...93,898,754
JBrowse link
G Lim2 lens intrinsic membrane protein 2 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769
JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ClinVar PMID:25741868 PMID:32761064 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
JBrowse link
G Nkg7 natural killer cell granule protein 7 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:93,844,748...93,845,975
Ensembl chr 1:93,844,902...93,845,983
JBrowse link
G Siglecl1 SIGLEC family like 1 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:93,916,971...93,924,742
Ensembl chr 1:93,900,773...93,913,028
Ensembl chr 1:93,900,773...93,913,028
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 2
ClinVar Annotator: match by term: Glutaric acidemia type 2
ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Vsig10l V-set and immunoglobulin domain containing 10 like ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:93,871,487...93,880,157
Ensembl chr 1:93,851,774...93,879,566
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2
OMIM
CTD
ClinVar
PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 More... NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797
JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 ClinVar NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
JBrowse link
N-Acetylaspartate Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: N-acetylaspartate deficiency OMIM
ClinVar
PMID:19807691 NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
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 CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:12594532 PMID:12754705 NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465
JBrowse link
neonatal-onset type II citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II | ClinVar Annotator: match by term: SLC25A13-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
JBrowse link
Neu-Laxova syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
JBrowse link
G Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17436247 PMID:17576681 PMID:25152457 More... NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
JBrowse link
G Vps13a vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:213,901,999...214,128,638
Ensembl chr 1:213,901,999...214,128,555
JBrowse link
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM
ClinVar
PMID:25741868 PMID:35482014 NCBI chr 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433
JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar PMID:25741868 PMID:35482014 NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132
JBrowse link
Nonsyndromic Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:7874125 PMID:8302318 PMID:10649493 PMID:12876664 PMID:18463683 More... NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:18821858 PMID:25741868 PMID:28266639 PMID:28492532 PMID:30868578 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:1429711 PMID:1642278 PMID:1899321 PMID:1903591 PMID:1943686 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:16704458 PMID:21739261 PMID:25741868 PMID:28266639 PMID:28492532 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO
ISS
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency
OMIM:611126
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More... NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More... NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 PMID:25533962 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:9536098 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
ocular albinism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO
ISS
ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I
OMIM:300500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISS OMIM:300500 MouseDO NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
JBrowse link
G Tyr tyrosinase ISO DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism
ClinVar
RGD
PMID:9163730 PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 More... RGD:8694339 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
oculocutaneous albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: RGD PMID:16185271 RGD:11354899 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532 NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISS
ISO
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312
ClinVar Annotator: match by term: Oculocutaneous albinism
MouseDO
ClinVar
PMID:7874125 PMID:8302318 PMID:10987646 PMID:12876664 PMID:16199547 More... NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532 NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISS
ISO
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312
ClinVar Annotator: match by term: Oculocutaneous albinism
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
G Tyr tyrosinase treatment IAGP
ISO
ISS
DNA:missense mutation:exon:p.R299H (rat)
ClinVar Annotator: match by term: Oculocutaneous albinism
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.S128I(mouse)
DNA:mutations:multiple:
OCA1, OMIM:203100, OCA1B, OMIM:606952
ClinVar
MouseDO
CTD
RGD
PMID:666627 PMID:1429711 PMID:1642278 PMID:1820207 PMID:1832718 More... RGD:1599687, RGD:8694352, RGD:8694345, RGD:8694338, RGD:1599686 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO OCA3, OMIM:203290
ClinVar Annotator: match by term: Oculocutaneous albinism
ClinVar
RGD
PMID:8651291 RGD:1599692 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | ClinVar Annotator: match by term: TYR-related condition ClinVar PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1820207 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
oculocutaneous albinism type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase treatment ISO DNA:missense mutation:exon: p.I151S(human)
ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism
CTD Direct Evidence: marker/mechanism
DNa:mutations:cds:p.R77Q,p.P310insC,p.D383N(human)
DNA:mutations:multiple:
ClinVar
OMIM
CTD
RGD
PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... RGD:8694334, RGD:8694340, RGD:8694337, RGD:8694335, RGD:8694335 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
oculocutaneous albinism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism
CTD
OMIM
ClinVar
PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1B ClinVar PMID:25741868 NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756
JBrowse link
oculocutaneous albinism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
OMIM
CTD
ClinVar
PMID:7581459 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: OCA2-related condition | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
CTD Direct Evidence: marker/mechanism
DNA:deletion:exons, introns:IVS9+13636-IVS20-6592del (human)
DNA:snps:cds, intron:p.N486Y, c.1045-15T>G (human)
DNA:missense mutation:cds:p.G775D (human)
DNA:deletion:exon:699-?-859+?del (human)
OMIM
ClinVar
CTD
RGD
PMID:1773534 PMID:7762554 PMID:7874125 PMID:7920637 PMID:8302318 More... RGD:9491836, RGD:9491830, RGD:9491821, RGD:9491820 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF ClinVar PMID:8651291 PMID:9345097 PMID:18680187 PMID:28492532 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
oculocutaneous albinism type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyrp1 tyrosinase-related protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculocutaneous albinism type 3 | ClinVar Annotator: match by term: TYRP1-related condition
OMIM
CTD
ClinVar
PMID:8651291 PMID:9345097 PMID:9536098 PMID:15996218 PMID:16199547 More... NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
oculocutaneous albinism type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human)
ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:11574907 PMID:14070830 PMID:14722913 PMID:14961451 PMID:15565285 More... RGD:1599921 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
oculocutaneous albinism type VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI ClinVar PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 More... NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI OMIM
ClinVar
PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 More... NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
JBrowse link
oculocutaneous albinism type VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrmda leucine rich melanocyte differentiation associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculocutaneous albinism type 7
OMIM
CTD
ClinVar
PMID:23395477 PMID:25741868 PMID:26818737 PMID:28492532 PMID:29345414 More... NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749
JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
Oculocutaneous Albinism Type VIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII OMIM
ClinVar
PMID:25741868 PMID:33100333 PMID:33959807 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
JBrowse link
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Cxhxorf38 similar to human chromosome X open reading frame 38 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,128,070...10,150,904
Ensembl chr  X:10,129,657...10,150,900
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139
JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:28492532 NCBI chr  X:5,360,499...5,564,004
Ensembl chr  X:5,360,617...5,560,970
JBrowse link
G Fam47a family with sequence similarity 47, member A ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:42,762,231...42,763,887
Ensembl chr  X:42,762,229...42,763,883
JBrowse link
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:49,595,422...49,596,399
Ensembl chr  X:49,595,718...49,596,266
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Lancl3 LanC like family member 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:13,478,499...13,609,934
Ensembl chr  X:13,480,311...13,609,678
JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:43,693,205...43,725,664
Ensembl chr  X:43,693,211...43,725,657
JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,036,749...10,127,910
Ensembl chr  X:10,036,805...10,126,240
JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:12,060,993...12,063,318
Ensembl chr  X:12,060,883...12,065,774
JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,146,274...10,147,145
Ensembl chr  X:10,146,293...10,147,145
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011
JBrowse link
G Otc ornithine transcarbamylase IMP
ISO
ISS
ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
OMIM:311250
CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutation:exon:EX4p.R129H (mouse)
DNA:missense mutations:multiple (human)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 More... RGD:4144079, RGD:4144085, RGD:1600998, RGD:1600999 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:42,494,256...42,606,612
Ensembl chr  X:42,494,256...42,606,588
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175
JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:49,972,414...50,044,658
Ensembl chr  X:49,972,330...50,042,056
JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:50,403,962...50,423,141
Ensembl chr  X:50,361,248...50,423,269
JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:45,421,405...45,447,900
Ensembl chr  X:45,421,405...45,447,900
JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:12,208,783...12,306,092
Ensembl chr  X:12,208,783...12,306,131
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency
OMIM
CTD
ClinVar
PMID:3407856 PMID:9536098 PMID:10369256 PMID:10805333 PMID:11355015 More... NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
JBrowse link
oxoglutarate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlst dihydrolipoamide S-succinyltransferase ISO ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency ClinVar NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296
JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency | ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32383294 More... NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479
JBrowse link
pentosuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcxr dicarbonyl and L-xylulose reductase ISO ClinVar Annotator: match by term: Essential pentosuria
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22042873 PMID:25526675 PMID:28595002 NCBI chr10:106,006,404...106,008,293 JBrowse link
phenylketonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:28492532 NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
JBrowse link
G Cast calpastatin ISO mRNA, protein:decreased expression:brain RGD PMID:15863237 RGD:5509818 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
JBrowse link
G Cat catalase IEP protein:decreased activity:brain: RGD PMID:23232760 RGD:9068874 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP RGD PMID:24488205 RGD:10449120 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric ClinVar PMID:15389992 PMID:19491146 PMID:24993959 PMID:25125585 PMID:25398234 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:forebrain (mouse) RGD PMID:16153867 RGD:13210766 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Hnf1a HNF1 homeobox A ISS OMIM:261600 MouseDO NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
G Nefh neurofilament heavy chain IEP protein:decreased expression:brain RGD PMID:7507064 RGD:9693700 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Pah phenylalanine hydroxylase ISO
ISS
DNA:missense mutation:cds:p.R408W (human)
DNA:missense mutation:exon:p.G46S (c.136G>A) (human)
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
CTD Direct Evidence: marker/mechanism
OMIM:261600
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: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
OMIM
ClinVar
CTD
MouseDO
RGD
PMID:1146119 PMID:1301187 PMID:1301193 PMID:1301200 PMID:1301201 More... RGD:1601521, RGD:1601523, RGD:1358249, RGD:13207451 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
JBrowse link
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia ClinVar NCBI chr20:29,037,545...29,044,322
Ensembl chr20:28,953,864...29,044,292
Ensembl chr20:28,953,864...29,044,292
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO DNA:point mutation:exon:R25Q, R16C
ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric
ClinVar
RGD
PMID:7493990 PMID:8707300 PMID:9450907 PMID:10319579 PMID:11388593 More... RGD:1601576 NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869
JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO quinoid dihydropteridine reductase deficiency; DNA:insertion:exon:c.390insACT
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2
CTD
ClinVar
RGD
PMID:7627180 PMID:8326489 PMID:8518287 PMID:9744478 PMID:11153907 More... RGD:1601577 NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,752,183...185,755,623
Ensembl chr 2:185,752,072...185,755,599
JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
JBrowse link
G Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,818,946...185,833,252
Ensembl chr 2:185,821,210...185,833,353
JBrowse link
G Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,576,650...186,687,748
Ensembl chr 2:186,576,676...186,687,663
JBrowse link
G Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571
JBrowse link
G Zfp697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:185,970,562...186,003,884
Ensembl chr 2:185,970,576...186,001,041
JBrowse link
piebaldism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18397875 RGD:12738207 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO
ISS
ClinVar Annotator: match by term: Partial albinism | ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive
OMIM:172800
CTD Direct Evidence: marker/mechanism
DNA:missense, frameshift mutations:cds:
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:338655 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1717985 More... RGD:1600045, RGD:12910729 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Snai2 snail family transcriptional repressor 2 susceptibility ISO DNA:deletions
ClinVar Annotator: match by term: Partial albinism
ClinVar
RGD
PMID:12444107 PMID:12955764 PMID:24033266 PMID:28492532 PMID:30936914 More... RGD:1600041 NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200
JBrowse link
prolidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pepd peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
JBrowse link
propionic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936
JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:15464417 PMID:19157943 PMID:22033733 PMID:28492532 NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO
ISS
ClinVar Annotator: match by term: Propionic acidemia
OMIM:606054
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 More... NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Propionic acidemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 More... NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,243,416...46,252,273
Ensembl chr 9:46,242,748...46,252,249
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:31883641 NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:99,558,285...99,567,023
Ensembl chr15:99,560,323...99,567,035
JBrowse link
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17436247 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
JBrowse link
PSPH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cct6a chaperonin containing TCP1 subunit 6A ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,872,736...26,883,125
Ensembl chr12:26,872,574...26,883,337
JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755
JBrowse link
G Phkg1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,838,822...26,854,547
Ensembl chr12:26,838,968...26,852,850
JBrowse link
G Psph phosphoserine phosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
OMIM
CTD
ClinVar
PMID:9222972 PMID:9536098 PMID:14673469 PMID:16199547 PMID:17576681 More... NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816
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 chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136
JBrowse link
sarcosinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sardh sarcosine dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar Annotator: match by term: Sarcosin dehydrogenase complex, deficiency of
OMIM
CTD
ClinVar
PMID:22825317 PMID:25741868 PMID:28492532 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:23010199 PMID:25741868 NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4
CTD
ClinVar
PMID:16357253 PMID:17999355 PMID:23010199 PMID:25741868 PMID:29025994 NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
JBrowse link
succinic semialdehyde dehydrogenase deficiency 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 ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 More... NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
JBrowse link
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
JBrowse link
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 More... NCBI chr17:40,084,427...40,132,035
Ensembl chr17:40,084,617...40,126,939
JBrowse link
G Mrs2 magnesium transporter MRS2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:40,063,924...40,087,073
Ensembl chr17:40,063,962...40,081,887
JBrowse link
systemic primary carnitine deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl6 acyl-CoA synthetase long-chain family member 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,439,914...38,501,182
Ensembl chr10:38,440,080...38,498,757
JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,836,549...38,905,056
Ensembl chr10:38,836,555...38,905,059
Ensembl chr 1:38,836,555...38,905,059
JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,567,728...38,650,824
Ensembl chr10:38,567,729...38,650,824
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,989,516...38,993,259
Ensembl chr 4:92,100,973...92,101,568
JBrowse link
G Il3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,964,299...38,983,628
Ensembl chr10:38,964,311...38,983,601
JBrowse link
G P4ha2 prolyl 4-hydroxylase subunit alpha 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,243,136...38,271,983
Ensembl chr10:38,243,139...38,287,314
JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938
JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,655,854...38,824,227
Ensembl chr10:38,655,867...38,823,211
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927
JBrowse link
G Slc22a4 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,133,333...38,179,932
Ensembl chr10:38,133,322...38,179,720
JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO
ISS
DNA:missense mutations:cds:p.S28I, p.Y447C (human)
ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect
OMIM:212140
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 More... RGD:1580611 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tietz albinism-deafness syndrome | ClinVar Annotator: match by term: Tietz syndrome
OMIM:103500
CTD
ClinVar
OMIM
MouseDO
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
tyrosinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Fumarylacetoacetase deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosinemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7757089 PMID:7929843 PMID:7942842 PMID:7977370 PMID:8028615 More... RGD:737743 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Hypertyrosinemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
JBrowse link
G Tat tyrosine aminotransferase susceptibility ISO DNA:point mutations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertyrosinemia
CTD
ClinVar
RGD
PMID:1357662 RGD:1600125 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
JBrowse link
tyrosinemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:138,084,632...138,125,595
Ensembl chr 1:138,084,634...138,125,595
JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:137,906,921...138,062,430
Ensembl chr 1:137,908,920...138,062,415
JBrowse link
G Fah fumarylacetoacetate hydrolase treatment ISO
ISS
IMP
ClinVar Annotator: match by term: Tyrosinemia type I
OMIM:276700
associated with liver disease;DNA:missense mutation:cds:p.R142G (human)
OMIM
ClinVar
MouseDO
RGD
PMID:1401056 PMID:7550234 PMID:7757089 PMID:7929843 PMID:7942842 More... RGD:14401588, RGD:14401587, RGD:14398827, RGD:14398823 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
JBrowse link
G Fahem10Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 10, Dlli IMP by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in drinking water RGD PMID:29507093 RGD:14398827
G Fahem15Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli IMP by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)in the drinking water. RGD PMID:27510266 RGD:14398823
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999
JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:138,581,002...138,652,052
Ensembl chr 1:138,581,002...138,651,939
JBrowse link
tyrosinemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tat tyrosine aminotransferase ISO ClinVar Annotator: match by term: Tyrosinemia type II OMIM
ClinVar
PMID:1357662 PMID:9536098 PMID:9544843 PMID:16199547 PMID:16917729 More... NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
JBrowse link
tyrosinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO
ISS
ClinVar Annotator: match by term: Tyrosinemia type III
OMIM:276710
OMIM
ClinVar
MouseDO
PMID:9343288 PMID:10942115 PMID:17560158 PMID:19630565 PMID:23036342 More... NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
JBrowse link
urocanase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uroc1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Urocanate hydratase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18414213 PMID:19304569 PMID:25741868 PMID:28492532 NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
JBrowse link
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 2 OMIM
ClinVar
PMID:11204305 PMID:17334708 PMID:22012986 PMID:25741868 PMID:28492532 More... NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Nutritional and Metabolic Diseases 8225
      disease of metabolism 8225
        inherited metabolic disorder 6206
          amino acid metabolic disorder 1524
            2-Methylacetoacetyl CoA Thiolase Deficiency 0
            2-Methylbutyryl-CoA Dehydrogenase Deficiency 2
            2-aminoadipic 2-oxoadipic aciduria 2
            2-hydroxyglutaric aciduria + 93
            3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 74
            3-Hydroxyisobutyric Aciduria 0
            5-Oxoprolinase Deficiency 1
            Adams Nance Syndrome 0
            Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
            Albinism + 98
            Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
            Aminoacylase 1 Deficiency 3
            Arakawa Syndrome 2 0
            Asparagine Synthetase Deficiency 1
            Beta-Aminoisobutyric Acid, Urinary Excretion of 1
            Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 3
            Blue Diaper Syndrome 0
            Brunner syndrome 3
            Camptodactyly Taurinuria 0
            Cysteine Peptiduria 0
            Diaminopentanuria 0
            Dibasic Amino Aciduria I 0
            Dimethylglycine Dehydrogenase Deficiency 1
            GABA aminotransferase deficiency 7
            Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
            Glucoglycinuria 0
            Glutamate Monosodium Sensitivity 0
            Glutamine Deficiency, Congenital 1
            Glutaric Aciduria + 70
            Glycinuria with or without Oxalate Urolithiasis 4
            HMG-CoA synthase 2 deficiency 2
            Hartnup disease 1
            Hydroxyprolinemia 0
            Hyperleucine-Isoleucinemia 0
            Hypertaurinuric Cardiomyopathy 1
            Hypertryptophanemia + 1
            IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
            Ichthyosis, Split Hairs, and Amino Aciduria 0
            Indolylacroyl Glycinuria with Mental Retardation 0
            Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
            Isobutyryl-CoA Dehydrogenase Deficiency 6
            Ketoadipicaciduria 0
            Lysine Malabsorption Syndrome 0
            Maleylacetoacetate Isomerase Deficiency 1
            Mercaptolactate-Cysteine Disulfiduria 0
            Methionine Malabsorption Syndrome 0
            Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
            Methylmalonyl-CoA Epimerase Deficiency + 56
            Myopathy due to Malate-Aspartate Shuttle Defect 0
            N-Acetylaspartate Deficiency 1
            Richards-Rundle Syndrome 0
            Tiglic Acidemia 0
            Tryptophanuria with Dwarfism 0
            Tyrosinosis 0
            Valinemia + 1
            Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
            adenylosuccinase lyase deficiency 121
            alkaptonuria + 103
            argininosuccinic aciduria 8
            aromatic L-amino acid decarboxylase deficiency 1
            beta-ketothiolase deficiency 7
            branched-chain keto acid dehydrogenase kinase deficiency 38
            carboxypeptidase N deficiency 1
            cerebral creatine deficiency syndrome + 125
            cystathioninuria 1
            cystinuria + 7
            dicarboxylic aminoaciduria 1
            diphthamide deficiency syndrome + 4
            fumarase deficiency 7
            gamma-amino butyric acid metabolism disorder + 12
            gamma-glutamyl transpeptidase deficiency 1
            glutamate-cysteine ligase deficiency 1
            glutathione synthetase deficiency + 1
            glycine encephalopathy + 36
            histidine metabolism disease + 2
            homocystinuria + 89
            homocystinuria-megaloblastic anemia cblG type 1
            hydroxykynureninuria 1
            hyperhomocysteinemia + 126
            hyperlysinemia + 1
            hypermethioninemia + 4
            hyperprolinemia + 49
            isolated sulfite oxidase deficiency 1
            isovaleric acidemia 1
            leucine-sensitive hypoglycemia of infancy 2
            lysinuric protein intolerance 74
            maple syrup urine disease + 104
            methylmalonic acidemia + 50
            mitochondrial DNA depletion syndrome 5 7
            multiple acyl-CoA dehydrogenase deficiency + 13
            multiple carboxylase deficiency + 13
            nuclear type mitochondrial complex I deficiency 20 7
            organic acidemia + 384
            oxoglutarate dehydrogenase deficiency 2
            pentosuria 1
            phenylketonuria + 42
            prolidase deficiency 1
            propionic acidemia + 21
            sarcosinemia 1
            serine deficiency + 21
            succinic semialdehyde dehydrogenase deficiency 4
            systemic primary carnitine deficiency disease 13
            tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia + 29
            tyrosinemia + 12
            urea cycle disorder + 81
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          inherited metabolic disorder 6206
            amino acid metabolic disorder 1524
              2-Methylacetoacetyl CoA Thiolase Deficiency 0
              2-Methylbutyryl-CoA Dehydrogenase Deficiency 2
              2-aminoadipic 2-oxoadipic aciduria 2
              2-hydroxyglutaric aciduria + 93
              3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 74
              3-Hydroxyisobutyric Aciduria 0
              5-Oxoprolinase Deficiency 1
              Adams Nance Syndrome 0
              Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
              Albinism + 98
              Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
              Aminoacylase 1 Deficiency 3
              Arakawa Syndrome 2 0
              Asparagine Synthetase Deficiency 1
              Beta-Aminoisobutyric Acid, Urinary Excretion of 1
              Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 3
              Blue Diaper Syndrome 0
              Brunner syndrome 3
              Camptodactyly Taurinuria 0
              Cysteine Peptiduria 0
              Diaminopentanuria 0
              Dibasic Amino Aciduria I 0
              Dimethylglycine Dehydrogenase Deficiency 1
              GABA aminotransferase deficiency 7
              Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
              Glucoglycinuria 0
              Glutamate Monosodium Sensitivity 0
              Glutamine Deficiency, Congenital 1
              Glutaric Aciduria + 70
              Glycinuria with or without Oxalate Urolithiasis 4
              HMG-CoA synthase 2 deficiency 2
              Hartnup disease 1
              Hydroxyprolinemia 0
              Hyperleucine-Isoleucinemia 0
              Hypertaurinuric Cardiomyopathy 1
              Hypertryptophanemia + 1
              IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
              Ichthyosis, Split Hairs, and Amino Aciduria 0
              Indolylacroyl Glycinuria with Mental Retardation 0
              Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
              Isobutyryl-CoA Dehydrogenase Deficiency 6
              Ketoadipicaciduria 0
              Lysine Malabsorption Syndrome 0
              Maleylacetoacetate Isomerase Deficiency 1
              Mercaptolactate-Cysteine Disulfiduria 0
              Methionine Malabsorption Syndrome 0
              Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
              Methylmalonyl-CoA Epimerase Deficiency + 56
              Myopathy due to Malate-Aspartate Shuttle Defect 0
              N-Acetylaspartate Deficiency 1
              Richards-Rundle Syndrome 0
              Tiglic Acidemia 0
              Tryptophanuria with Dwarfism 0
              Tyrosinosis 0
              Valinemia + 1
              Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
              adenylosuccinase lyase deficiency 121
              alkaptonuria + 103
              argininosuccinic aciduria 8
              aromatic L-amino acid decarboxylase deficiency 1
              beta-ketothiolase deficiency 7
              branched-chain keto acid dehydrogenase kinase deficiency 38
              carboxypeptidase N deficiency 1
              cerebral creatine deficiency syndrome + 125
              cystathioninuria 1
              cystinuria + 7
              dicarboxylic aminoaciduria 1
              diphthamide deficiency syndrome + 4
              fumarase deficiency 7
              gamma-amino butyric acid metabolism disorder + 12
              gamma-glutamyl transpeptidase deficiency 1
              glutamate-cysteine ligase deficiency 1
              glutathione synthetase deficiency + 1
              glycine encephalopathy + 36
              histidine metabolism disease + 2
              homocystinuria + 89
              homocystinuria-megaloblastic anemia cblG type 1
              hydroxykynureninuria 1
              hyperhomocysteinemia + 126
              hyperlysinemia + 1
              hypermethioninemia + 4
              hyperprolinemia + 49
              isolated sulfite oxidase deficiency 1
              isovaleric acidemia 1
              leucine-sensitive hypoglycemia of infancy 2
              lysinuric protein intolerance 74
              maple syrup urine disease + 104
              methylmalonic acidemia + 50
              mitochondrial DNA depletion syndrome 5 7
              multiple acyl-CoA dehydrogenase deficiency + 13
              multiple carboxylase deficiency + 13
              nuclear type mitochondrial complex I deficiency 20 7
              organic acidemia + 384
              oxoglutarate dehydrogenase deficiency 2
              pentosuria 1
              phenylketonuria + 42
              prolidase deficiency 1
              propionic acidemia + 21
              sarcosinemia 1
              serine deficiency + 21
              succinic semialdehyde dehydrogenase deficiency 4
              systemic primary carnitine deficiency disease 13
              tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia + 29
              tyrosinemia + 12
              urea cycle disorder + 81
paths to the root