Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


show annotations for term's descendants           Sort by:
 
Metabolic Brain Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438226 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21816645 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Fas Fas cell surface death receptor IEP protein:increased expression:hippocampus, neuron; associated with diabetes mellitus, insulin-dependent RGD PMID:15777748 RGD:1600356 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
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 PMID:15385440, PMID:15548604, PMID:21937992, PMID:24894778, PMID:25763823, PMID:26208971 RGD:13506818, RGD:13506815, RGD:13506814 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO DNA:mutations:exons:
CTD Direct Evidence: marker/mechanism
CTD PMID:23561848 RGD:13506826 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by OMIM:210200
OMIM
ClinVar
PMID:9187484, PMID:10485305, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15359379, PMID:15868465, PMID:16010683, PMID:16835865, PMID:17968484, PMID:19339287, PMID:21071250, PMID:22150417, PMID:22264772, PMID:22642865, PMID:24033266, PMID:24078573, PMID:25356967, PMID:25382614, PMID:25741868, PMID:26566957, PMID:27577216, PMID:27601257, PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency
ClinVar Annotator: match by OMIM:210210
OMIM
ClinVar
PMID:1293382, PMID:7128647, PMID:8598650, PMID:9544913, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15877210, PMID:16010683, PMID:16835865, PMID:17908719, PMID:17968484, PMID:20818363, PMID:20818383, PMID:21071250, PMID:22030835, PMID:22150417, PMID:22264772, PMID:22642865, PMID:25087612, PMID:25356967, PMID:25741868, PMID:26566957, PMID:26764160, PMID:27033733, PMID:27601257, PMID:28018443, PMID:28492532 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
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 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11170888, PMID:14680978, PMID:24033266, PMID:25356967, PMID:25741868, PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
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 Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by OMIM:614739
OMIM
ClinVar
PMID:16527507, PMID:22683713, PMID:23707711, PMID:24033266, PMID:24997715, PMID:25016221, PMID:25741868, PMID:28482397, PMID:28492532, PMID:28778788, PMID:28916646, PMID:32313153 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE
ClinVar Annotator: match by term: Adrenomyeloneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300100
ClinVar Annotator: match by null
ClinVar
CTD
OMIM
PMID:1481812, PMID:6728562, PMID:6795626, PMID:7202134, PMID:7561948, PMID:7581394, PMID:7668254, PMID:7677014, PMID:7717396, PMID:7811247, PMID:7825602, PMID:7849718, PMID:7849723, PMID:7860075, PMID:7894167, PMID:7904210, PMID:7998779, PMID:8040304, PMID:8048932, PMID:8353949, PMID:8441467, PMID:8566952, PMID:8621506, PMID:8651290, PMID:8773611, PMID:8892025, PMID:9051655, PMID:9088111, PMID:9195223, PMID:9212180, PMID:9242200, PMID:9425230, PMID:9452087, PMID:9553942, PMID:9556301, PMID:9894883, PMID:10190819, PMID:10227685, PMID:10480364, PMID:10551832, PMID:10737980, PMID:10815658, PMID:10980309, PMID:10980539, PMID:11102997, PMID:11220738, PMID:11248239, PMID:11310629, PMID:11330045, PMID:11336405, PMID:11438993, PMID:11739809, PMID:11748843, PMID:11798073, PMID:11810273, PMID:12175782, PMID:12530690, PMID:12624723, PMID:12913200, PMID:14713218, PMID:14767898, PMID:15032602, PMID:15192815, PMID:15284851, PMID:15333254, PMID:15388659, PMID:15564782, PMID:15643618, PMID:15800013, PMID:15811009, PMID:15812458, PMID:15878823, PMID:16018167, PMID:16023551, PMID:16087056, PMID:16319717, PMID:16401743, PMID:16415970, PMID:16949688, PMID:16996397, PMID:17029209, PMID:17285533, PMID:17498713, PMID:17504626, PMID:17542813, PMID:17602313, PMID:17990484, PMID:18206987, PMID:18306728, PMID:18973459, PMID:19129531, PMID:19496984, PMID:19660195, PMID:19963315, PMID:20008255, PMID:20195870, PMID:20301491, PMID:20455653, PMID:20626745, PMID:20661612, PMID:20800589, PMID:20849526, PMID:20859061, PMID:21068741, PMID:21300044, PMID:21476988, PMID:21478203, PMID:21488864, PMID:21586746, PMID:21700483, PMID:21889498, PMID:21907609, PMID:21966424, PMID:22057157, PMID:22176151, PMID:22198747, PMID:22280810, PMID:22366764, PMID:22479560, PMID:22483867, PMID:22914231, PMID:23009600, PMID:23154058, PMID:23300730, PMID:23419472, PMID:23430809, PMID:23469258, PMID:23566833, PMID:23566848, PMID:23664929, PMID:23671276, PMID:23712774, PMID:23768953, PMID:23835273, PMID:23926373, PMID:24154795, PMID:24480483, PMID:24685009, PMID:24719134, PMID:24722136, PMID:24788897, PMID:25275259, PMID:25324868, PMID:25741868, PMID:26227820, PMID:26260157, PMID:26388597, PMID:26454440, PMID:26467025, PMID:26523528, PMID:26609365, PMID:27067449, PMID:27084228, PMID:27766264, PMID:27779215, PMID:28456143, PMID:28492532, PMID:28503596, PMID:28953922, PMID:29056270, PMID:29284317, PMID:29443243, PMID:30311386, PMID:30544401, PMID:30564185, PMID:30902905, PMID:31074578, PMID:32207279, PMID:8048932 RGD:1598655 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:59,184,111...59,240,133
Ensembl chr 8:59,184,113...59,239,954
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:148,421,627...148,422,921
Ensembl chr  X:148,421,627...148,422,921
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,319,687...156,328,974
Ensembl chr  X:156,319,687...156,328,309
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpp1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr 1:148,450,213...148,458,945 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,363,400...156,379,433
Ensembl chr  X:156,363,405...156,379,189
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,335,385...156,340,256
Ensembl chr  X:156,336,450...156,340,234
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,540,442...156,569,272
Ensembl chr  X:156,552,528...156,569,249
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,507,797...156,540,733
Ensembl chr  X:156,507,797...156,540,733
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,340,919...156,343,771
Ensembl chr  X:156,340,925...156,343,777
JBrowse link
Adult Refsum Disease, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Refsum disease, adult, 1 ClinVar PMID:1155634, PMID:2433405, PMID:9326939, PMID:9326940, PMID:9657395, PMID:10767344, PMID:11555634, PMID:14974078, PMID:17905308, PMID:18612766, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
Adult Refsum Disease, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B
ClinVar Annotator: match by OMIM:614879
OMIM
ClinVar
PMID:1773541, PMID:8295403, PMID:9090381, PMID:9090382, PMID:9090383, PMID:9472033, PMID:9686382, PMID:10083738, PMID:10673331, PMID:11756410, PMID:11781871, PMID:12325024, PMID:12522768, PMID:14974078, PMID:17325280, PMID:20301447, PMID:21465523, PMID:21990100, PMID:22008564, PMID:23352163, PMID:23572185, PMID:25741868, PMID:25800479, PMID:25851898, PMID:26408048, PMID:26467025, PMID:26587300, PMID:28492532, PMID:30311386 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar
OMIM
PMID:16951681, PMID:19151023, PMID:21225301, PMID:21909802, PMID:23649844, PMID:25741868, PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
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: Citrin deficiency
CTD Direct Evidence: marker/mechanism
DNA,protein:mutations,decreased expression:exons,liver:multiple
ClinVar
CTD
OMIM
PMID:10369257, PMID:11153906, PMID:11281457, PMID:11343052, PMID:11343053, PMID:11793471, PMID:12424587, PMID:12512993, PMID:14680984, PMID:15050970, PMID:16059747, PMID:16449956, PMID:17880783, PMID:18392553, PMID:18487280, PMID:19036621, PMID:19470249, PMID:20301360, PMID:20376801, PMID:20927635, PMID:21134364, PMID:21424115, PMID:21507300, PMID:22710133, PMID:23022256, PMID:23053473, PMID:23067347, PMID:23430852, PMID:24069319, PMID:24161253, PMID:24586645, PMID:25110155, PMID:25216257, PMID:25365849, PMID:25741868, PMID:26852511, PMID:27347070, PMID:27405544, PMID:27577219, PMID:27578510, PMID:28492532, PMID:29651749, PMID:29659898, PMID:10369257, PMID:11153906 RGD:1599241, RGD:1599242 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241, PMID:18231121, PMID:20236127, PMID:20979233, PMID:25741868, PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:21880868, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821, PMID:1582434, PMID:2067633, PMID:2725645, PMID:8884268, PMID:9500334, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:14745080, PMID:15122711, PMID:15181170, PMID:15258572, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15800909, PMID:15824347, PMID:15913923, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16080118, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16545482, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16715201, PMID:16857757, PMID:16919951, PMID:16929381, PMID:16940310, PMID:16943369, PMID:16957900, PMID:17067213, PMID:17088268, PMID:17280874, PMID:17426723, PMID:17436221, PMID:17438011, PMID:17452231, PMID:17502560, PMID:17538929, PMID:17846414, PMID:17894835, PMID:17923349, PMID:17950645, PMID:17980715, PMID:18156159, PMID:18195149, PMID:18195151, PMID:18294203, PMID:18321754, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18716558, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19125351, PMID:19189930, PMID:19195941, PMID:19251978, PMID:19275594, PMID:19307547, PMID:19344718, PMID:19364868, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19762913, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19837034, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20176107, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20438629, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20701905, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20837862, PMID:20843780, PMID:20883824, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21236670, PMID:21259344, PMID:21276947, PMID:21282586, PMID:21301859, PMID:21305355, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21696159, PMID:21704543, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21953457, PMID:21956653, PMID:21993618, PMID:22000311, PMID:22006280, PMID:22114710, PMID:22166854, PMID:22176657, PMID:22189570, PMID:22237560, PMID:22277967, PMID:22334187, PMID:22342071, PMID:22357363, PMID:22470557, PMID:22494076, PMID:22552686, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22778364, PMID:22863191, PMID:22931735, PMID:22933815, PMID:22987704, PMID:22995991, PMID:23066759, PMID:23077218, PMID:23084792, PMID:23208208, PMID:23212759, PMID:23248042, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23446635, PMID:23446645, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23665194, PMID:23719791, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23873972, PMID:23921535, PMID:24033266, PMID:24091540, PMID:24099403, PMID:24122062, PMID:24259288, PMID:24265579, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24642831, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25065347, PMID:25118206, PMID:25203713, PMID:25281868, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25466440, PMID:25488682, PMID:25585994, PMID:25660390, PMID:25713120, PMID:25741868, PMID:25771874, PMID:25850945, PMID:25914719, PMID:25940035, PMID:26050231, PMID:26077851, PMID:26095671, PMID:26104464, PMID:26169155, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27290639, PMID:27345795, PMID:27381400, PMID:27422324, PMID:27450679, PMID:27538604, PMID:27538665, PMID:27822509, PMID:27826120, PMID:27838477, PMID:27854218, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28206745, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28815208, PMID:28837072, PMID:28865037, PMID:28901595, PMID:28958595, PMID:29029963, PMID:29190809, PMID:29272804, PMID:29278894, PMID:29302508, PMID:29341116, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29482223, PMID:29574624, PMID:29588995, PMID:29644085, PMID:29712893, PMID:29915382, PMID:29920680, PMID:29950568, PMID:29992832, PMID:30021052, PMID:30167885, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30423451, PMID:30831263, PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355, PMID:25525273, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency
protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:207900
ClinVar
CTD
OMIM
PMID:203629, PMID:705937, PMID:1705937, PMID:2263616, PMID:3106853, PMID:9045711, PMID:9256435, PMID:9686346, PMID:10896281, PMID:11747432, PMID:11747433, PMID:12384776, PMID:12408190, PMID:15273245, PMID:16435180, PMID:16941645, PMID:17326097, PMID:18616627, PMID:19703900, PMID:20236848, PMID:20298553, PMID:21667091, PMID:21744316, PMID:22081021, PMID:22231378, PMID:22541557, PMID:23430928, PMID:24033266, PMID:24136197, PMID:24166829, PMID:24516753, PMID:25087612, PMID:25433810, PMID:25525159, PMID:25741868, PMID:25778938, PMID:26661037, PMID:26745957, PMID:26843370, PMID:27515243, PMID:28251416, PMID:28492532, PMID:28600779, PMID:29326055, PMID:29773863, PMID:30285816, PMID:31030429, PMID:31943503, PMID:12408190, PMID:3440446 RGD:1302509, RGD:13628399 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
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: Asparagine synthetase deficiency
ClinVar Annotator: match by OMIM:615574
OMIM
ClinVar
PMID:24139043, PMID:25741868, PMID:25758715, PMID:27469131, PMID:27522229, PMID:28492532, PMID:28776279, PMID:29375865, PMID:29405484 NCBI chr 4:33,742,876...33,761,106
Ensembl chr 4:33,743,364...33,761,163
JBrowse link
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency OMIM
ClinVar
PMID:1371116, PMID:2060627, PMID:2514102, PMID:2615292, PMID:6256275, PMID:8370580, PMID:8460394, PMID:15856305, PMID:17919309, PMID:25741868, PMID:26822237, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1301935, PMID:1542674, PMID:1928091, PMID:4624444, PMID:5041390, PMID:7627193, PMID:8127074, PMID:8128957, PMID:8834238, PMID:12566520, PMID:18060825, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:8268925, PMID:9429153, PMID:11708866, PMID:16051511, PMID:16198137, PMID:17935162, PMID:21953985, PMID:23500595, PMID:23842451, PMID:28492532 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A
ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency
ClinVar Annotator: match by OMIM:261640
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3297709, PMID:7493990, PMID:7563095, PMID:7698774, PMID:8178819, PMID:8707300, PMID:9159737, PMID:9222757, PMID:9450907, PMID:10089284, PMID:10220141, PMID:10319579, PMID:10585341, PMID:10874306, PMID:11388593, PMID:11438997, PMID:11694255, PMID:11916314, PMID:16850690, PMID:16917893, PMID:17001642, PMID:17160954, PMID:18505119, PMID:19280650, PMID:19350512, PMID:20059486, PMID:21933604, PMID:22237589, PMID:23138986, PMID:23942198, PMID:25304915, PMID:25418970, PMID:25456745, PMID:25525159, PMID:25741868, PMID:25758715, PMID:26830550, PMID:27243974, PMID:27246466, PMID:28378820, PMID:28492532, PMID:28915855, PMID:29499199 NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265
JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:7563095, PMID:20059486 NCBI chr 8:54,991,501...54,999,454
Ensembl chr 8:54,992,841...54,994,871
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 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
JBrowse link
G Bckdk branched chain ketoacid dehydrogenase kinase ISO
IAGP
DNA:missense mutation:cds:G369E (rat)
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar Annotator: match by term: BCKDK DEFICIENCY
ClinVar Annotator: match by OMIM:614923
OMIM
ClinVar
PMID:22956686, PMID:25741868, PMID:26467025, PMID:28492532, PMID:27472223 RGD:39131293 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
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 1:199,112,192...199,159,125
Ensembl chr 1:199,155,296...199,159,125
JBrowse link
G Ccdc189 coiled-coil domain containing 189 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,032,105...199,037,267
Ensembl chr 1:199,032,105...199,037,267
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 1:199,624,037...199,626,255
Ensembl chr 1:199,624,037...199,624,783
JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Fbrs fibrosin ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:198,925,265...198,938,939
Ensembl chr 1:198,932,870...198,937,750
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 1:199,196,126...199,217,147
Ensembl chr 1:199,196,059...199,216,391
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 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
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 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740
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 1:199,595,968...199,623,931
Ensembl chr 1:199,495,298...199,623,960
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 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
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 1:199,555,560...199,576,948
Ensembl chr 1:199,555,722...199,576,932
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 1:199,360,645...199,372,925
Ensembl chr 1:199,360,645...199,372,923
JBrowse link
G LOC102555635 zinc finger protein 39-like ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr10:45,193,771...45,211,045
Ensembl chr10:45,193,989...45,211,044
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 1:199,217,504...199,222,363
Ensembl chr 1:199,217,016...199,222,851
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 1:199,019,298...199,032,053
Ensembl chr 1:199,019,289...199,032,052
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 1:198,910,994...198,915,473 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 1:199,379,374...199,396,339
Ensembl chr 1:199,379,374...199,395,363
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 1:199,331,108...199,337,129
Ensembl chr 1:199,331,787...199,336,451
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 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
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 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
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 1:199,037,472...199,052,823
Ensembl chr 1:199,037,544...199,052,172
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 1:199,687,775...199,716,205
Ensembl chr 1:199,687,778...199,716,205
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 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
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 1:199,682,688...199,688,809
Ensembl chr 1:199,682,688...199,688,809
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 1:198,957,764...199,007,576
Ensembl chr 1:198,960,542...199,007,347
JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:199,287,384...199,295,606
Ensembl chr 1:199,287,710...199,294,979
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 1:199,664,039...199,670,970
Ensembl chr 1:199,664,173...199,670,961
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 1:199,450,042...199,457,902
Ensembl chr 1:199,449,973...199,457,895
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 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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 1:199,052,430...199,065,639
Ensembl chr 1:198,894,000...199,064,150
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 1:199,321,354...199,331,256
Ensembl chr 1:199,323,628...199,330,997
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 1:199,310,935...199,321,231
Ensembl chr 1:199,310,935...199,320,727
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 1:198,865,950...198,869,068
Ensembl chr 1:198,866,137...198,869,009
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 1:198,894,000...198,900,364
Ensembl chr 1:198,894,000...199,064,150
JBrowse link
G Zfp764 zinc finger protein 764 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:198,834,995...198,839,251
Ensembl chr 1:198,834,989...198,839,228
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 ISO CPS I deficiency, OMIM:237300, DNA:splice-site mutation
ClinVar Annotator: match by term: Congenital hyperammonemia, type I
ClinVar Annotator: match by term: CPS I DEFICIENCY
ClinVar Annotator: match by OMIM:237300
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8486760, PMID:9686343, PMID:9711878, PMID:11388595, PMID:11474210, PMID:12655559, PMID:12955727, PMID:15050969, PMID:15164414, PMID:15617192, PMID:15876373, PMID:16737834, PMID:17310273, PMID:18414213, PMID:18666241, PMID:19167850, PMID:19309799, PMID:19793055, PMID:20578160, PMID:20800523, PMID:20855223, PMID:21120950, PMID:22173106, PMID:22575620, PMID:23649895, PMID:24813853, PMID:25741868, PMID:26059772, PMID:26440671, PMID:26592762, PMID:27150549, PMID:27290639, PMID:28007335, PMID:28444906, PMID:28492532, PMID:28526534, PMID:28658158, PMID:31507628, PMID:8486760 RGD:1600715 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa
ClinVar PMID:2203258, PMID:8912788, PMID:16838077, PMID:18414213, PMID:20080426, PMID:23430949, PMID:23757202, PMID:25243733, PMID:25525159, PMID:25741868, PMID:27623443, PMID:28196920, PMID:28492532, PMID:30311386 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
central pontine myelinolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO protein:altered expression:basal part of pons: RGD PMID:24252214 RGD:8696006 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Aqp4 aquaporin 4 ISO protein:altered expression:basal part of pons: RGD PMID:24252214 RGD:8696006 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4D ClinVar
OMIM
PMID:10831399, PMID:12872253, PMID:15322984, PMID:17470135, PMID:20582309, PMID:21892769, PMID:23393557, PMID:23996628, PMID:24136616, PMID:25108819, PMID:25231362, PMID:25741868, PMID:26002053, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:11941481, PMID:25741868 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Ass1 argininosuccinate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Citrullinemia, mild
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11941481, PMID:12815590, PMID:14680976, PMID:18473344, PMID:18925679, PMID:23780642, PMID:25741868, PMID:28111830, PMID:28492532, PMID:7557970 RGD:1599301 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10805333, PMID:10369256 RGD:1599240, RGD:1599239 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
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 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type II ClinVar PMID:10369257, PMID:11153906, PMID:11281457, PMID:11343052, PMID:11343053, PMID:11793471, PMID:12424587, PMID:12512993, PMID:14680984, PMID:15050970, PMID:16059747, PMID:16449956, PMID:17880783, PMID:18367750, PMID:18392553, PMID:19036621, PMID:19470249, PMID:20301360, PMID:21134364, PMID:21424115, PMID:21507300, PMID:22575253, PMID:22710133, PMID:23022256, PMID:23053473, PMID:23067347, PMID:23430852, PMID:24069319, PMID:24161253, PMID:24586645, PMID:25216257, PMID:25365849, PMID:25741868, PMID:26852511, PMID:27347070, PMID:27405544, PMID:27577219, PMID:27578510, PMID:28492532, PMID:29659898 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
JBrowse link
classic citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: argininosuccinate synthetase deficiency ClinVar PMID:11941481, PMID:25741868 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
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, PMID:6124451, PMID:7557970, PMID:7977368, PMID:8792870, PMID:9090528, PMID:10987146, PMID:11211875, PMID:11571557, PMID:11708871, PMID:11738042, PMID:11941481, PMID:12684898, PMID:12815590, PMID:14680976, PMID:15266621, PMID:15334737, PMID:15863597, PMID:16124451, PMID:16475226, PMID:18473344, PMID:18666241, PMID:18925679, PMID:19006241, PMID:19358837, PMID:20005624, PMID:21227727, PMID:21244552, PMID:21483992, PMID:22106832, PMID:22473243, PMID:22494545, PMID:22768672, PMID:23094117, PMID:23099195, PMID:23246278, PMID:23430935, PMID:23611581, PMID:23780642, PMID:24033266, PMID:24508627, PMID:24713661, PMID:24765495, PMID:24889030, PMID:25047749, PMID:25087612, PMID:25179242, PMID:25433810, PMID:25537548, PMID:25741868, PMID:26117549, PMID:26206375, PMID:27287393, PMID:27629047, PMID:28111830, PMID:28132756, PMID:28302489, PMID:28492532, PMID:29378745, PMID:30285816, PMID:30311386, PMID:30612563, PMID:32860008 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type I ClinVar PMID:10369257, PMID:14680984, PMID:23022256, PMID:23053473, PMID:23067347, PMID:25216257, PMID:25741868, PMID:27405544, PMID:28492532 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
JBrowse link
classic galactosemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Galactosemia, classic
ClinVar Annotator: match by term: Galactose-1-phosphate uridyltransferase deficiency
ClinVar
OMIM
PMID:2011574, PMID:4759900, PMID:7550229, PMID:8198125, PMID:8892021, PMID:9012409, PMID:9222760, PMID:9450900, PMID:10424825, PMID:10649501, PMID:11152465, PMID:11261429, PMID:11286503, PMID:11479743, PMID:11754113, PMID:19224951, PMID:19581158, PMID:20301691, PMID:21228398, PMID:22963887, PMID:24718839, PMID:25087612, PMID:25473725, PMID:25592817, PMID:25614870, PMID:25741868, PMID:28492532, PMID:29261178 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
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: Combined d-2- and l-2-hydroxyglutaric aciduria OMIM
ClinVar
PMID:23393310, PMID:23561848, PMID:25741868, PMID:30311386 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1
ClinVar Annotator: match by OMIM:609060
OMIM
ClinVar
PMID:15537906, PMID:17160893, PMID:21119709, PMID:21986555, PMID:22277967, PMID:24033266, PMID:25741868, PMID:25852744, PMID:28216230, PMID:28492532, PMID:30311386, PMID:32313153 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 9:85,542,763...85,547,814
Ensembl chr 9:85,542,702...85,548,144
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr20:3,588,462...3,599,514
Ensembl chr20:3,588,497...3,599,514
JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:20362274, PMID:22019070, PMID:25583628, PMID:25741868, PMID:26173962, PMID:26467025, PMID:28492532 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 ClinVar PMID:20362274, PMID:22019070, PMID:25583628, PMID:25741868, PMID:26173962, PMID:26467025, PMID:28492532 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mphosph9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr12:37,700,282...37,766,487
Ensembl chr12:37,702,404...37,768,957
JBrowse link
G RGD1563482 similar to hypothetical protein FLJ38663 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar
PMID:20598281, PMID:24033266, PMID:24284555, PMID:24424123, PMID:25326635, PMID:25741868, PMID:26539891, PMID:27858754, PMID:28492532, PMID:32581362 NCBI chr12:37,680,152...37,682,994
Ensembl chr12:37,677,019...37,699,616
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: PROSAPOSIN DEFICIENCY
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by OMIM:611721
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1371116, PMID:1689485, PMID:2019586, PMID:2066109, PMID:2302219, PMID:2320574, PMID:2514102, PMID:8370580, PMID:8554069, PMID:10196694, PMID:10682309, PMID:11309366, PMID:15773042, PMID:17561962, PMID:17616409, PMID:17919309, PMID:18429043, PMID:18693274, PMID:19267410, PMID:19955343, PMID:20484222, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:26462614, PMID:26831127, PMID:28492532, PMID:30632081 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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: Maple syrup urine disease, type 3
ClinVar Annotator: match by term: LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO
ClinVar Annotator: match by OMIM:246900
OMIM
ClinVar
PMID:1347528, PMID:1640293, PMID:3769994, PMID:7797549, PMID:8506365, PMID:8652022, PMID:8968745, PMID:9298831, PMID:9540846, PMID:9764998, PMID:9934985, PMID:10448086, PMID:11687750, PMID:12925875, PMID:14765544, PMID:15712224, PMID:16442803, PMID:16601893, PMID:16770810, PMID:17404228, PMID:18362926, PMID:20652410, PMID:20672374, PMID:21558426, PMID:21930696, PMID:23290025, PMID:23478190, PMID:23995961, PMID:24516753, PMID:25251739, PMID:25356417, PMID:25741868, PMID:27290639, PMID:27544700, PMID:27896107, PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
Copper-Overload Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr14:107,664,321...107,759,974
Ensembl chr14:107,664,255...107,760,191
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:88,055,843...88,060,560
Ensembl chr10:88,055,841...88,060,561
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:143,059,731...143,075,907
Ensembl chr 7:143,059,764...143,075,907
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:72,550,107...72,612,078
Ensembl chr18:72,550,219...72,612,078
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
creatine transporter deficiency 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:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine transporter deficiency
ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency
ClinVar Annotator: match by term: Creatine deficiency, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300352
OMIM
ClinVar
CTD
PMID:10893433, PMID:11326334, PMID:11898126, PMID:12210795, PMID:12536364, PMID:15154114, PMID:15234334, PMID:16086185, PMID:16738945, PMID:17101918, PMID:17465020, PMID:18047645, PMID:18414213, PMID:19188083, PMID:20528887, PMID:20717164, PMID:20846889, PMID:21836662, PMID:21910234, PMID:22281021, PMID:22659343, PMID:23408511, PMID:23644449, PMID:23660394, PMID:24137762, PMID:24190795, PMID:25326635, PMID:25741868, PMID:25803912, PMID:25861866, PMID:26467025, PMID:27081545, PMID:28065824, PMID:28492532, PMID:29429461, PMID:31222513, PMID:32860008 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25741868 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2363674, PMID:2567273, PMID:2900981, PMID:8108423, PMID:18566660, PMID:25741868 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar
OMIM
PMID:7609436, PMID:15609246, PMID:16037974, PMID:16081310, PMID:16442322, PMID:18414213, PMID:20020533, PMID:21384162, PMID:25741868, PMID:26178471, PMID:28492532, PMID:30908763 NCBI chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
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, PMID:11571214, PMID:25741868, PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar
OMIM
PMID:18414213, PMID:20171147, PMID:20847235, PMID:20946881, PMID:21889589, PMID:22160010, PMID:22397365, PMID:23558173, PMID:23815907, PMID:23949315, PMID:24049096, PMID:24606448, PMID:25157968, PMID:25326635, PMID:25398939, PMID:25741868, PMID:26619011, PMID:28492532 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Hypomyelination, global cerebral
ClinVar Annotator: match by OMIM:612949
OMIM
ClinVar
PMID:19641205, PMID:24515575, PMID:24973975, PMID:25741868, PMID:28492532 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
encephalopathy due to defective mitochondrial and peroxisomal fission 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
ClinVar Annotator: match by term: Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
ClinVar Annotator: match by OMIM:614388
OMIM
ClinVar
PMID:15364948, PMID:17460227, PMID:18414213, PMID:20696759, PMID:25326635, PMID:25741868, PMID:26604000, PMID:26825290, PMID:26931468, PMID:26992161, PMID:27145208, PMID:27328748, PMID:28492532, PMID:29877124, PMID:30850373 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Osbpl7 oxysterol binding protein-like 7 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr10:84,986,330...85,003,947
Ensembl chr10:84,986,328...85,004,562
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
ClinVar PMID:15364948, PMID:17460227, PMID:18414213, PMID:20696759, PMID:25741868, PMID:26604000, PMID:26825290, PMID:26931468, PMID:26992161, PMID:27145208, PMID:27328748, PMID:28492532, PMID:29877124, PMID:30850373 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377
JBrowse link
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mff mitochondrial fission factor ISO ClinVar Annotator: match by term: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2
ClinVar
OMIM
PMID:22499341, PMID:25558065, PMID:25741868, PMID:26783368 NCBI chr 9:88,490,280...88,518,517
Ensembl chr 9:88,493,593...88,517,827
JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Gla galactosidase, alpha ISO DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Fabry disease
ClinVar Annotator: match by term: Fabry's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301500
ClinVar
CTD
OMIM
PMID:1315304, PMID:1315715, PMID:1650161, PMID:1668641, PMID:1753437, PMID:1846223, PMID:2152885, PMID:2160973, PMID:2164807, PMID:2171331, PMID:2393552, PMID:2539398, PMID:2744760, PMID:2836863, PMID:6379599, PMID:7504405, PMID:7531540, PMID:7575533, PMID:7596372, PMID:7911050, PMID:7951217, PMID:8069316, PMID:8395937, PMID:8411052, PMID:8738659, PMID:8807334, PMID:8834244, PMID:8863162, PMID:8875188, PMID:8878432, PMID:8996967, PMID:9100224, PMID:9105656, PMID:9116979, PMID:9395081, PMID:9452068, PMID:9452111, PMID:9554750, PMID:9883849, PMID:10090526, PMID:10208848, PMID:10649504, PMID:10666480, PMID:10838196, PMID:10845698, PMID:10916280, PMID:11076046, PMID:11137837, PMID:11295840, PMID:11322659, PMID:11531969, PMID:11531972, PMID:11668641, PMID:11688386, PMID:11804208, PMID:11828341, PMID:11889412, PMID:11914245, PMID:12068026, PMID:12175777, PMID:12359124, PMID:12428061, PMID:12429061, PMID:12480979, PMID:12668521, PMID:12694230, PMID:12778775, PMID:12786754, PMID:12796853, PMID:12911529, PMID:12920095, PMID:12938095, PMID:14635108, PMID:14680977, PMID:15091117, PMID:15100373, PMID:15162124, PMID:15339079, PMID:15492942, PMID:15611419, PMID:15702404, PMID:15712228, PMID:15713906, PMID:15776423, PMID:15806320, PMID:16215932, PMID:16232095, PMID:16533976, PMID:16595074, PMID:16754800, PMID:16773563, PMID:17040996, PMID:17206462, PMID:17452128, PMID:17532296, PMID:17555407, PMID:17656478, PMID:17804462, PMID:18023222, PMID:18057066, PMID:18154965, PMID:18205205, PMID:18287059, PMID:18297328, PMID:18387337, PMID:18424138, PMID:18565198, PMID:18596132, PMID:18633574, PMID:18698230, PMID:18830871, PMID:18849176, PMID:18974770, PMID:19287194, PMID:19373884, PMID:19387866, PMID:19621417, PMID:19763152, PMID:19823873, PMID:19925601, PMID:19941952, PMID:20022777, PMID:20031620, PMID:20110537, PMID:20122163, PMID:20300124, PMID:20307669, PMID:20360539, PMID:20367968, PMID:20464614, PMID:20498269, PMID:20505683, PMID:20615758, PMID:20628902, PMID:20716442, PMID:20821055, PMID:21062768, PMID:21092187, PMID:21138548, PMID:21229318, PMID:21333496, PMID:21353612, PMID:21517827, PMID:21549080, PMID:21587323, PMID:21598360, PMID:21683120, PMID:21804088, PMID:21890869, PMID:21896204, PMID:21946453, PMID:21972175, PMID:22004918, PMID:22078290, PMID:22176145, PMID:22205110, PMID:22226368, PMID:22227322, PMID:22241068, PMID:22305854, PMID:22378313, PMID:22406018, PMID:22437327, PMID:22472932, PMID:22551898, PMID:22563919, PMID:22682330, PMID:22695894, PMID:22773828, PMID:22805550, PMID:22874111, PMID:22905681, PMID:23109060, PMID:23146289, PMID:23219219, PMID:23248976, PMID:23305247, PMID:23306324, PMID:23307880, PMID:23332617, PMID:23378663, PMID:23393592, PMID:23430502, PMID:23430526, PMID:23430946, PMID:23465405, PMID:23474038, PMID:23537685, PMID:23566439, PMID:23568732, PMID:23591357, PMID:23677059, PMID:23691425, PMID:23724928, PMID:23818648, PMID:23913314, PMID:23922385, PMID:23935525, PMID:23980562, PMID:24015197, PMID:24033266, PMID:24082139, PMID:24094560, PMID:24236025, PMID:24334114, PMID:24365053, PMID:24380807, PMID:24386359, PMID:24395922, PMID:24503780, PMID:24582695, PMID:24613481, PMID:24661928, PMID:24718812, PMID:24784157, PMID:24829596, PMID:25026990, PMID:25040344, PMID:25078086, PMID:25149322, PMID:25179549, PMID:25319043, PMID:25382311, PMID:25386848, PMID:25409744, PMID:25439755, PMID:25468650, PMID:25468652, PMID:25511234, PMID:25525159, PMID:25596309, PMID:25611685, PMID:25637381, PMID:25663229, PMID:25741868, PMID:25900714, PMID:25955246, PMID:25974833, PMID:25977923, PMID:26044846, PMID:26047621, PMID:26083343, PMID:26179544, PMID:26238931, PMID:26252393, PMID:26297554, PMID:26305465, PMID:26333625, PMID:26415523, PMID:26424312, PMID:26456105, PMID:26563328, PMID:26631895, PMID:26652600, PMID:26691501, PMID:26866599, PMID:26937405, PMID:26990548, PMID:27083555, PMID:27129690, PMID:27142856, PMID:27160240, PMID:27211852, PMID:27238910, PMID:27356758, PMID:27431810, PMID:27532257, PMID:27554049, PMID:27560961, PMID:27576502, PMID:27585509, PMID:27595546, PMID:27629047, PMID:27657681, PMID:27773586, PMID:27825144, PMID:27831900, PMID:27832731, PMID:27896102, PMID:27896103, PMID:27916943, PMID:27931613, PMID:27979989, PMID:27992580, PMID:28082092, PMID:28253518, PMID:28275245, PMID:28299312, PMID:28302345, PMID:28340804, PMID:28360401, PMID:28377241, PMID:28389313, PMID:28409012, PMID:28430823, PMID:28492532, PMID:28500230, PMID:28596458, PMID:28615118, PMID:28646478, PMID:28649509, PMID:28672034, PMID:28682471, PMID:28723748, PMID:28728877, PMID:28736719, PMID:28749998, PMID:28756410, PMID:28798024, PMID:28799081, PMID:28941980, PMID:28977874, PMID:28988177, PMID:29018006, PMID:29037082, PMID:29079200, PMID:29132836, PMID:29203563, PMID:29215092, PMID:29247119, PMID:29307789, PMID:29330335, PMID:29361493, PMID:29476735, PMID:29487688, PMID:29491734, PMID:29543226, PMID:29631605, PMID:29661900, PMID:29770213, PMID:29794742, PMID:29867742, PMID:29982630, PMID:30038331, PMID:30093709, PMID:30201457, PMID:30311386, PMID:30380558, PMID:30385651, PMID:30386727, PMID:30477121, PMID:30568064, PMID:30569317, PMID:30571380, PMID:30594474, PMID:30644091, PMID:30715505, PMID:30773290, PMID:30972193, PMID:31020198, PMID:31036492, PMID:31200018, PMID:31213654, PMID:31291414, PMID:31392112, PMID:31449323, PMID:31566927, PMID:31654629, PMID:31907047, PMID:32023956, PMID:32161151, PMID:32418857, PMID:32531501, PMID:32860008, PMID:2539398 RGD:1601350 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry Disease ClinVar NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Fabry disease, cardiac variant
ClinVar PMID:1315715, PMID:1846223, PMID:2171331, PMID:7596372, PMID:8738659, PMID:9395081, PMID:9883849, PMID:10208848, PMID:10838196, PMID:10916280, PMID:11322659, PMID:11688386, PMID:11828341, PMID:12428061, PMID:15702404, PMID:17532296, PMID:17555407, PMID:19621417, PMID:19823873, PMID:20031620, PMID:20505683, PMID:20821055, PMID:21598360, PMID:22241068, PMID:22437327, PMID:23109060, PMID:23378663, PMID:23935525, PMID:24033266, PMID:24386359, PMID:25382311, PMID:25611685, PMID:25741868, PMID:27356758, PMID:27554049, PMID:27560961, PMID:27595546, PMID:27931613, PMID:28082092, PMID:28377241, PMID:28430823, PMID:28492532, PMID:29215092 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
Farber lipogranulomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Farber disease
ClinVar Annotator: match by term: Farber's lipogranulomatosis
ClinVar Annotator: match by OMIM:228000
OMIM
ClinVar
PMID:3037247, PMID:8955159, PMID:9128814, PMID:10610716, PMID:11241842, PMID:16951918, PMID:20560208, PMID:21893389, PMID:22565078, PMID:23707712, PMID:24033266, PMID:24164096, PMID:24614645, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:31680123 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952, PMID:10749987, PMID:11673586, PMID:12020273, PMID:14970747, PMID:14994243, PMID:16326995, PMID:18924171, PMID:23643385, PMID:25741868, PMID:25959673, PMID:28492532, PMID:30311386 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715, PMID:23643385, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876
JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385, PMID:25741868, PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385, PMID:25741868, PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by OMIM:615119
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
ClinVar
OMIM
PMID:2175025, PMID:12474143, PMID:15235026, PMID:15863660, PMID:21412973, PMID:22310368, PMID:25741868, PMID:26959537, PMID:28492532 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM
PMID:21457908 NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 ClinVar
OMIM
PMID:22277967, PMID:24549041, PMID:25339201, PMID:25959673, PMID:26160915 NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192
JBrowse link
Free Sialic Acid Storage Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) ClinVar PMID:2334213, PMID:10069709, PMID:10581036, PMID:10947946, PMID:11992753, PMID:12121352, PMID:12359136, PMID:12794687, PMID:12794688, PMID:15510212, PMID:15516337, PMID:15805149, PMID:16170568, PMID:18695252, PMID:19557856, PMID:20301643, PMID:21781115, PMID:24767253, PMID:24993898, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type
ClinVar Annotator: match by term: Leigh syndrome, French Canadian type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:220111
OMIM
ClinVar
CTD
PMID:12529507, PMID:15139850, PMID:17050673, PMID:18414213, PMID:20200222, PMID:21266382, PMID:21437181, PMID:22494076, PMID:24033266, PMID:25741868, PMID:26510951, PMID:26741492, PMID:27408822, PMID:27574110, PMID:28492532, PMID:29152527, PMID:30311386 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
French Type Sialuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Sialuria, French type ClinVar PMID:11528398, PMID:12497639, PMID:20175955, PMID:21708040, PMID:24005727, PMID:25182749, PMID:25741868, PMID:28492532 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
fucosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Fucosidosis ClinVar PMID:25741868 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO DNA:nonsense mutation:cds: (human)
ClinVar Annotator: match by term: Fucosidosis
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:230000
ClinVar
OMIM
PMID:1214294, PMID:1281988, PMID:2012122, PMID:2642067, PMID:2803224, PMID:7815431, PMID:8097260, PMID:8401503, PMID:8504303, PMID:8739734, PMID:9039984, PMID:9762612, PMID:10094192, PMID:17427030, PMID:23210910, PMID:24033266, PMID:25741868, PMID:26515723, PMID:28492532, PMID:2642067 RGD:1598969 NCBI chr 5:154,269,296...154,286,545
Ensembl chr 5:154,269,118...154,286,544
JBrowse link
galactokinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar
OMIM
PMID:7670469, PMID:10521295, PMID:10570908, PMID:10790206, PMID:11139256, PMID:11231902, PMID:11978883, PMID:11978884, PMID:12647253, PMID:12694189, PMID:12942049, PMID:15024738, PMID:15322984, PMID:15590630, PMID:17517531, PMID:19309526, PMID:20405025, PMID:21264483, PMID:21290184, PMID:22632133, PMID:25741868, PMID:28173647, PMID:28418495, PMID:28429145, PMID:28468868, PMID:28492532, PMID:28672748 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar PMID:25741868, PMID:28492532 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
galactose epimerase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar
OMIM
PMID:6408303, PMID:7305435, PMID:9326324, PMID:9538513, PMID:9973283, PMID:10086948, PMID:11117433, PMID:11279193, PMID:15639193, PMID:16301867, PMID:16302980, PMID:16385452, PMID:18188677, PMID:19250319, PMID:23644136, PMID:23732289, PMID:24033266, PMID:24578239, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
galactosemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B IEP protein:increased expression:endothelial cell, lens RGD PMID:16936110 RGD:1599728 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Cryaa crystallin, alpha A IEP mRNA:decreased expression:lens RGD PMID:1707863 RGD:1600994 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP Protein:increased expression:lens epithelium RGD PMID:16936110 RGD:1599728 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Gale UDP-galactose-4-epimerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Galk1 galactokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670469 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by OMIM:230400
ClinVar Annotator: match by term: Galactosemia, classic
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
ClinVar
CTD
PMID:1301925, PMID:1373122, PMID:1427861, PMID:1610789, PMID:1766867, PMID:1897530, PMID:2011574, PMID:2233247, PMID:4759900, PMID:7550229, PMID:7573066, PMID:7623454, PMID:7671959, PMID:7887416, PMID:7887417, PMID:8040766, PMID:8051928, PMID:8198125, PMID:8406510, PMID:8499924, PMID:8522334, PMID:8551426, PMID:8598637, PMID:8692963, PMID:8741038, PMID:8869397, PMID:8892021, PMID:8943248, PMID:8956044, PMID:9012409, PMID:9202622, PMID:9222760, PMID:9323558, PMID:9396569, PMID:9450900, PMID:9635294, PMID:9686364, PMID:9766850, PMID:9772178, PMID:10037750, PMID:10070616, PMID:10220154, PMID:10384398, PMID:10399107, PMID:10408771, PMID:10424825, PMID:10439960, PMID:10535394, PMID:10573007, PMID:10649501, PMID:10811638, PMID:10884393, PMID:10952646, PMID:10960497, PMID:11152465, PMID:11216901, PMID:11261429, PMID:11286503, PMID:11286505, PMID:11397328, PMID:11479743, PMID:11511927, PMID:11596650, PMID:11678552, PMID:11754113, PMID:11919338, PMID:12208137, PMID:12350230, PMID:12491926, PMID:12552079, PMID:12595586, PMID:12872845, PMID:14518827, PMID:14728988, PMID:15172000, PMID:15633893, PMID:15749517, PMID:15775761, PMID:15841485, PMID:16167124, PMID:16540753, PMID:16765930, PMID:16838075, PMID:17041746, PMID:17079880, PMID:17143577, PMID:17486650, PMID:17876724, PMID:17884932, PMID:18207281, PMID:18210213, PMID:18813948, PMID:18956253, PMID:19181333, PMID:19224951, PMID:19375122, PMID:19418241, PMID:19581158, PMID:19904210, PMID:20008339, PMID:20100763, PMID:20213376, PMID:20301691, PMID:20348403, PMID:20351709, PMID:20547145, PMID:20663501, PMID:21188552, PMID:21228398, PMID:21501963, PMID:21779791, PMID:22461411, PMID:22693313, PMID:22729817, PMID:22743281, PMID:22773758, PMID:22870861, PMID:22944367, PMID:22963887, PMID:23022339, PMID:23319291, PMID:23418865, PMID:23430559, PMID:23583749, PMID:23690308, PMID:23749220, PMID:23924834, PMID:24033266, PMID:24045215, PMID:24718839, PMID:24973740, PMID:25052314, PMID:25087612, PMID:25124065, PMID:25268296, PMID:25473725, PMID:25525159, PMID:25592817, PMID:25614870, PMID:25741868, PMID:25814382, PMID:26565537, PMID:27005423, PMID:27176039, PMID:27308838, PMID:27363831, PMID:27415407, PMID:27603904, PMID:27629047, PMID:27878435, PMID:28065439, PMID:28173647, PMID:28492532, PMID:28644047, PMID:28649529, PMID:29252199, PMID:29261178, PMID:29653003, PMID:30231941, PMID:30311386, PMID:30718057, PMID:30808388, PMID:31042289 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Galactosemia, classic ClinVar PMID:17079880 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
JBrowse link
Galactosemia IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: GALACTOSEMIA IV OMIM
ClinVar
PMID:30451973 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
Gaucher Disease, Type IIIc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC OMIM
ClinVar
PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8790604, PMID:8829654, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9375849, PMID:9554746, PMID:10079102, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10757640, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15605411, PMID:16061944, PMID:16086325, PMID:16293621, PMID:16981045, PMID:17395504, PMID:17427031, PMID:17620502, PMID:18022370, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21257328, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22387070, PMID:22451204, PMID:22592100, PMID:22713811, PMID:22968580, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23676350, PMID:23719189, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25456120, PMID:25535748, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25946768, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26709268, PMID:26743617, PMID:26868973, PMID:26905200, PMID:27094865, PMID:27123474, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27825739, PMID:27865684, PMID:27872820, PMID:28492532, PMID:28686011, PMID:28779532, PMID:28923368, PMID:29527153, PMID:30311386, PMID:30382391, PMID:30497978, PMID:30662625, PMID:31077260 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
Gaucher's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Chit1 chitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Gaucher disease
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar Annotator: match by term: Kerasin thesaurismosis
ClinVar Annotator: match by term: GBA DEFICIENCY
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gaucher Disease, Type 3
DNA:mutations:cds, intron:multiple (human)
DNA:missense mutations, deletion:cds:multiple (human)
ClinVar Annotator: match by null
ClinVar
CTD
PMID:1301953, PMID:1348297, PMID:1415223, PMID:1487244, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1840477, PMID:1864608, PMID:1897529, PMID:1899336, PMID:1961718, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3180993, PMID:3353383, PMID:7475546, PMID:7500895, PMID:7627184, PMID:7655857, PMID:7694727, PMID:7789963, PMID:7916532, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8432537, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8547070, PMID:8733893, PMID:8774051, PMID:8790604, PMID:8829654, PMID:8889578, PMID:8929950, PMID:9040001, PMID:9101438, PMID:9153297, PMID:9182788, PMID:9240741, PMID:9279145, PMID:9295080, PMID:9375849, PMID:9497856, PMID:9516376, PMID:9554454, PMID:9554746, PMID:9683600, PMID:9856561, PMID:10079102, PMID:10352942, PMID:10369158, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10679038, PMID:10685993, PMID:10744424, PMID:10757640, PMID:10777718, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11406344, PMID:11600137, PMID:11783951, PMID:11903352, PMID:11933202, PMID:11992489, PMID:12000368, PMID:12204005, PMID:12359135, PMID:12476451, PMID:12587096, PMID:12595585, PMID:12667990, PMID:12694238, PMID:12734541, PMID:12791040, PMID:12838552, PMID:12972024, PMID:14509164, PMID:14728994, PMID:14757438, PMID:14994233, PMID:15146461, PMID:15214004, PMID:15276648, PMID:15329082, PMID:15605411, PMID:15690354, PMID:15916907, PMID:15943874, PMID:15954102, PMID:15967693, PMID:16061944, PMID:16086325, PMID:16185900, PMID:16185907, PMID:16293621, PMID:16326120, PMID:16329099, PMID:16546416, PMID:16981045, PMID:17059888, PMID:17395504, PMID:17427031, PMID:17560820, PMID:17574891, PMID:17620502, PMID:17689991, PMID:17803231, PMID:18022370, PMID:18030725, PMID:18160183, PMID:18160322, PMID:18332251, PMID:18338393, PMID:18429048, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19026343, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19459886, PMID:19513999, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20629126, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20880730, PMID:20946052, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21250698, PMID:21257328, PMID:21370884, PMID:21384230, PMID:21445609, PMID:21455010, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:21779299, PMID:21796727, PMID:21823541, PMID:21831682, PMID:21982627, PMID:22112991, PMID:22118943, PMID:22160715, PMID:22173904, PMID:22192918, PMID:22220748, PMID:22227325, PMID:22234757, PMID:22247978, PMID:22344629, PMID:22350617, PMID:22375149, PMID:22387070, PMID:22429443, PMID:22451204, PMID:22526844, PMID:22592100, PMID:22623374, PMID:22658918, PMID:22713811, PMID:22791670, PMID:22812582, PMID:22884962, PMID:22968580, PMID:23035075, PMID:23056756, PMID:23225227, PMID:23332636, PMID:23386328, PMID:23426826, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23635853, PMID:23676350, PMID:23699752, PMID:23719189, PMID:23757202, PMID:23811968, PMID:23936319, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24278166, PMID:24313877, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:24801745, PMID:24904648, PMID:25084554, PMID:25127542, PMID:25249066, PMID:25326392, PMID:25435509, PMID:25456120, PMID:25482214, PMID:25535748, PMID:25558695, PMID:25637381, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25829804, PMID:25933391, PMID:25946768, PMID:26000814, PMID:26027833, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26220978, PMID:26296077, PMID:26709268, PMID:26743617, PMID:26756743, PMID:26847548, PMID:26868973, PMID:26905200, PMID:27008195, PMID:27008851, PMID:27094865, PMID:27123474, PMID:27123476, PMID:27136700, PMID:27153395, PMID:27222815, PMID:27312774, PMID:27397011, PMID:27571329, PMID:27682613, PMID:27717005, PMID:27735925, PMID:27825739, PMID:27864021, PMID:27865684, PMID:27872820, PMID:27922757, PMID:28034821, PMID:28492532, PMID:28506293, PMID:28686011, PMID:28727984, PMID:28749476, PMID:28779532, PMID:28923368, PMID:28944235, PMID:28947706, PMID:29091352, PMID:29140481, PMID:29423829, PMID:29527153, PMID:29602947, PMID:29656334, PMID:29685539, PMID:29948939, PMID:29980418, PMID:30115580, PMID:30302829, PMID:30311386, PMID:30328501, PMID:30382391, PMID:30461613, PMID:30497978, PMID:30528841, PMID:30537300, PMID:30637984, PMID:30662625, PMID:30764785, PMID:30777654, PMID:30949558, PMID:31077260, PMID:84325327, PMID:21112800, PMID:17059888, PMID:18586596, PMID:21252206 RGD:5508423, RGD:12791018, RGD:12791017, RGD:5508431 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Acid beta-glucosidase deficiency ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Gaucher's disease perinatal lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Gaucher disease, perinatal lethal
ClinVar Annotator: match by term: Gaucher disease collodion type
OMIM
ClinVar
PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2502917, PMID:2508065, PMID:2569551, PMID:3180993, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8432537, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8751878, PMID:8790604, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9554746, PMID:10079102, PMID:10352942, PMID:10636167, PMID:10649495, PMID:10685993, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12791040, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15214004, PMID:16061944, PMID:16293621, PMID:16546416, PMID:17059888, PMID:17395504, PMID:17427031, PMID:17560820, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20947659, PMID:20980259, PMID:21257328, PMID:21384230, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:21779299, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22234757, PMID:22375149, PMID:22451204, PMID:22526844, PMID:22592100, PMID:22658918, PMID:22968580, PMID:23430873, PMID:23588557, PMID:23676350, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25435509, PMID:25456120, PMID:25653295, PMID:25741868, PMID:25946768, PMID:26096741, PMID:26117366, PMID:26868973, PMID:26905200, PMID:27008851, PMID:27123476, PMID:27222815, PMID:27312774, PMID:27682613, PMID:27717005, PMID:28492532, PMID:28727984, PMID:28779532, PMID:28923368, PMID:29091352, PMID:29527153, PMID:30311386, PMID:30328501, PMID:30764785 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
Gaucher's disease type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD I
ClinVar Annotator: match by term: Gaucher's disease, type 1
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar Annotator: match by term: Gaucher Disease, Type 1
ClinVar Annotator: match by term: Gaucher disease, type I
ClinVar
OMIM
PMID:1301953, PMID:1348297, PMID:1415223, PMID:1487244, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1840477, PMID:1864608, PMID:1897529, PMID:1899336, PMID:1961718, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2349952, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3180993, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7655857, PMID:7694727, PMID:7789963, PMID:7916532, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8432537, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8790604, PMID:8829654, PMID:8889578, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9182788, PMID:9240741, PMID:9279145, PMID:9295080, PMID:9375849, PMID:9516376, PMID:9554746, PMID:9683600, PMID:10079102, PMID:10340647, PMID:10352942, PMID:10369158, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10679038, PMID:10685993, PMID:10744424, PMID:10757640, PMID:10777718, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11406344, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12476451, PMID:12587096, PMID:12595585, PMID:12791040, PMID:12838552, PMID:12972024, PMID:14728994, PMID:14757438, PMID:14994233, PMID:15146461, PMID:15214004, PMID:15276648, PMID:15605411, PMID:15690354, PMID:15943874, PMID:15954102, PMID:16061944, PMID:16086325, PMID:16185900, PMID:16293621, PMID:16329099, PMID:16546416, PMID:16981045, PMID:17059888, PMID:17395504, PMID:17427031, PMID:17560820, PMID:17574891, PMID:17620502, PMID:17689991, PMID:18022370, PMID:18030725, PMID:18332251, PMID:18338393, PMID:18429048, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19026343, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19394250, PMID:19459886, PMID:19513999, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20629126, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20880730, PMID:20946052, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21257328, PMID:21384230, PMID:21445609, PMID:21455010, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:21779299, PMID:21823541, PMID:21982627, PMID:22112991, PMID:22160715, PMID:22173904, PMID:22192918, PMID:22220748, PMID:22234757, PMID:22247978, PMID:22375149, PMID:22387070, PMID:22429443, PMID:22451204, PMID:22493294, PMID:22526844, PMID:22592100, PMID:22623374, PMID:22658918, PMID:22713811, PMID:22812582, PMID:22968580, PMID:23056756, PMID:23332636, PMID:23386328, PMID:23426826, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23635853, PMID:23676350, PMID:23699752, PMID:23719189, PMID:23757202, PMID:23811968, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24278166, PMID:24313877, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:24801745, PMID:25084554, PMID:25127542, PMID:25249066, PMID:25435509, PMID:25456120, PMID:25535748, PMID:25558695, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25829804, PMID:25933391, PMID:25946768, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26220978, PMID:26709268, PMID:26743617, PMID:26756743, PMID:26847548, PMID:26868973, PMID:26905200, PMID:27008851, PMID:27094865, PMID:27123474, PMID:27123476, PMID:27136700, PMID:27222815, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27735925, PMID:27825739, PMID:27864021, PMID:27865684, PMID:27872820, PMID:27922757, PMID:28492532, PMID:28506293, PMID:28686011, PMID:28727984, PMID:28779532, PMID:28923368, PMID:28947706, PMID:29091352, PMID:29140481, PMID:29527153, PMID:29602947, PMID:29685539, PMID:30115580, PMID:30311386, PMID:30328501, PMID:30382391, PMID:30497978, PMID:30528841, PMID:30537300, PMID:30637984, PMID:30662625, PMID:30764785, PMID:30949558, PMID:31077260, PMID:84325327 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: GD I ClinVar PMID:22493294 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
Gaucher's disease type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD II
ClinVar Annotator: match by term: Acute cerebral Gaucher disease
ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
ClinVar
OMIM
PMID:1301953, PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1840477, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8774051, PMID:8790604, PMID:8829654, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9375849, PMID:9554746, PMID:10079102, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10757640, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12694238, PMID:12734541, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15276648, PMID:15605411, PMID:15954102, PMID:16061944, PMID:16086325, PMID:16293621, PMID:16981045, PMID:17395504, PMID:17427031, PMID:17620502, PMID:17689991, PMID:18022370, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21257328, PMID:21445609, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:21982627, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22387070, PMID:22451204, PMID:22592100, PMID:22713811, PMID:22968580, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23676350, PMID:23719189, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25435509, PMID:25456120, PMID:25535748, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25946768, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26709268, PMID:26743617, PMID:26868973, PMID:26905200, PMID:27094865, PMID:27123474, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27825739, PMID:27865684, PMID:27872820, PMID:28492532, PMID:28686011, PMID:28727984, PMID:28779532, PMID:28923368, PMID:29140481, PMID:29527153, PMID:29685539, PMID:30311386, PMID:30382391, PMID:30497978, PMID:30528841, PMID:30537300, PMID:30662625, PMID:30764785, PMID:30949558, PMID:31077260 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
Gaucher's disease type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD III
ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type
ClinVar Annotator: match by term: Gaucher Disease, Type 3
ClinVar
OMIM
PMID:1301953, PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1840477, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8790604, PMID:8829654, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9375849, PMID:9554746, PMID:9650766, PMID:10079102, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10757640, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12476451, PMID:12595585, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15276648, PMID:15605411, PMID:15954102, PMID:16061944, PMID:16086325, PMID:16293621, PMID:16981045, PMID:17395504, PMID:17427031, PMID:17620502, PMID:17689991, PMID:18022370, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21257328, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22387070, PMID:22451204, PMID:22592100, PMID:22713811, PMID:22968580, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23676350, PMID:23719189, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25456120, PMID:25535748, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25946768, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26709268, PMID:26743617, PMID:26868973, PMID:26905200, PMID:27094865, PMID:27123474, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27825739, PMID:27865684, PMID:27872820, PMID:28492532, PMID:28686011, PMID:28779532, PMID:28923368, PMID:29140481, PMID:29527153, PMID:29685539, PMID:30311386, PMID:30382391, PMID:30497978, PMID:30537300, PMID:30662625, PMID:30764785, PMID:30949558, PMID:31077260 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
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 chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar Annotator: match by term: Glutaric acidemia type I
ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:231670
OMIM
ClinVar
CTD
PMID:1951469, PMID:7795610, PMID:8541831, PMID:8900227, PMID:8900228, PMID:9266361, PMID:9600243, PMID:9711871, PMID:9856558, PMID:9881681, PMID:10066389, PMID:10384381, PMID:10649503, PMID:10699052, PMID:10759157, PMID:10960496, PMID:11015709, PMID:11024031, PMID:11058907, PMID:11073722, PMID:11174631, PMID:11508549, PMID:11825066, PMID:11854167, PMID:12199454, PMID:12210585, PMID:12473778, PMID:12872844, PMID:12948740, PMID:14691600, PMID:15318278, PMID:15505393, PMID:15505400, PMID:15573311, PMID:15954035, PMID:16183314, PMID:16377226, PMID:16466958, PMID:16488172, PMID:16602100, PMID:16641220, PMID:17188916, PMID:17478444, PMID:17622945, PMID:17642054, PMID:17661081, PMID:18285246, PMID:18411069, PMID:18459892, PMID:18683078, PMID:18775954, PMID:18926513, PMID:19167251, PMID:19433275, PMID:19433437, PMID:19630565, PMID:20084589, PMID:20514322, PMID:20629163, PMID:20732827, PMID:20836999, PMID:20960650, PMID:20978942, PMID:21031586, PMID:21176883, PMID:21228398, PMID:21811973, PMID:21912879, PMID:22106832, PMID:22231382, PMID:22728054, PMID:23104440, PMID:23225040, PMID:23395213, PMID:23884036, PMID:24332224, PMID:24795062, PMID:24973495, PMID:25190159, PMID:25204480, PMID:25255367, PMID:25256449, PMID:25590979, PMID:25741868, PMID:25762492, PMID:25863083, PMID:26071121, PMID:26316201, PMID:26589311, PMID:26593172, PMID:26633542, PMID:26656312, PMID:27243974, PMID:27351573, PMID:27397597, PMID:27476540, PMID:27629047, PMID:27672653, PMID:27896087, PMID:28062662, PMID:28143689, PMID:28302372, PMID:28352331, PMID:28389991, PMID:28411331, PMID:28438223, PMID:28492532, PMID:28781846, PMID:28794906, PMID:29086383, PMID:29201125, PMID:29292490, PMID:29419857, PMID:29665094, PMID:30217722, PMID:30298489, PMID:30512148, PMID:30570710, PMID:31319225, PMID:31536184, PMID:28545977 RGD:13515124 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by synonym: Glutaryl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency
ClinVar PMID:1951469, PMID:8900227, PMID:8900228, PMID:9600243, PMID:9711871, PMID:10699052, PMID:10960496, PMID:11058907, PMID:11073722, PMID:12210585, PMID:12948740, PMID:15318278, PMID:15505393, PMID:17478444, PMID:18683078, PMID:18926513, PMID:19630565, PMID:21031586, PMID:21176883, PMID:22728054, PMID:24973495, PMID:25256449, PMID:25741868, PMID:27672653, PMID:28302372, PMID:28438223, PMID:28492532, PMID:31536184 NCBI chr19:25,982,003...26,002,399
Ensembl chr19:25,983,169...26,001,317
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)
ClinVar Annotator: match by OMIM:605899
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4434100, PMID:6179960, PMID:8005589, PMID:9600239, PMID:9621520, PMID:10873393, PMID:11139253, PMID:11286506, PMID:12948742, PMID:15272469, PMID:16051266, PMID:16450403, PMID:19299230, PMID:20949620, PMID:22171071, PMID:22261077, PMID:23352163, PMID:24033266, PMID:24838951, PMID:25231368, PMID:25741868, PMID:26179960, PMID:26371980, PMID:26467025, PMID:27164344, PMID:27362913, PMID:27620832, PMID:27884173, PMID:28244183, PMID:28462797, PMID:28492532, PMID:29300369, PMID:30311386, PMID:31319225, PMID:8005589, PMID:9621520, PMID:9600239 RGD:1599106, RGD:11073529, RGD:12879455 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
ClinVar Annotator: match by OMIM:605899
OMIM
ClinVar
PMID:12402263, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
DNA:deletions: :
DNA:mutation:cds: c.2607C>A(human)
ClinVar Annotator: match by OMIM:605899
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:660, PMID:445864, PMID:1634607, PMID:1996985, PMID:10798358, PMID:10873393, PMID:11286506, PMID:11592811, PMID:12126939, PMID:12402263, PMID:15192636, PMID:15236413, PMID:15272469, PMID:15670722, PMID:15791207, PMID:15824356, PMID:15851735, PMID:15864413, PMID:16404748, PMID:16450403, PMID:16601880, PMID:16802295, PMID:17361008, PMID:18581728, PMID:20691948, PMID:20933183, PMID:21411353, PMID:22002442, PMID:22171071, PMID:22633639, PMID:23349517, PMID:24033266, PMID:24123366, PMID:24407464, PMID:25231368, PMID:25326637, PMID:25525159, PMID:25741868, PMID:26179960, PMID:26467025, PMID:26539891, PMID:26749113, PMID:26947380, PMID:26969502, PMID:27362913, PMID:27617160, PMID:27799067, PMID:27884173, PMID:27896094, PMID:28116331, PMID:28244183, PMID:28302194, PMID:28468868, PMID:28492532, PMID:29205322, PMID:29232014, PMID:29239742, PMID:29988937, PMID:30311386, PMID:30609409, PMID:31319225, PMID:273629130, PMID:17361008, PMID:15851735 RGD:12904646, RGD:11062733 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:8005589, PMID:9621520, PMID:16450403, PMID:19299230, PMID:23352163, PMID:26467025, PMID:27362913, PMID:27620832, PMID:28492532 NCBI chr 8:117,062,989...117,068,134
Ensembl chr 8:117,062,884...117,068,130
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISS OMIM:605899 MouseDO NCBI chr 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
JBrowse link
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine ClinVar
OMIM
PMID:27481395, PMID:27773429, PMID:28492532, PMID:29190063 NCBI chr 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
JBrowse link
glycogen storage disease II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:18414213, PMID:23757202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Glycogen storage disease, type II
ClinVar Annotator: match by term: Alpha-1,4-glucosidase deficiency
ClinVar Annotator: match by OMIM:232300
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
OMIM
ClinVar
CTD
PMID:1109266, PMID:1652892, PMID:1856189, PMID:1862843, PMID:1895140, PMID:1898413, PMID:2111708, PMID:2203258, PMID:2252923, PMID:2510307, PMID:3049072, PMID:3132435, PMID:5614309, PMID:7603530, PMID:7695647, PMID:7717400, PMID:7881422, PMID:7881425, PMID:7945303, PMID:7981676, PMID:8094613, PMID:8401535, PMID:8429042, PMID:8435067, PMID:8558570, PMID:8604985, PMID:8834250, PMID:8912788, PMID:8935410, PMID:8990003, PMID:9196050, PMID:9259196, PMID:9266392, PMID:9425285, PMID:9521422, PMID:9529346, PMID:9535769, PMID:9554747, PMID:9660056, PMID:9950376, PMID:10189220, PMID:10206684, PMID:10338092, PMID:10377006, PMID:10528311, PMID:10737124, PMID:11053688, PMID:11071489, PMID:11328962, PMID:11343339, PMID:11738358, PMID:11854868, PMID:11927738, PMID:11949932, PMID:12213618, PMID:12601120, PMID:12897283, PMID:12923862, PMID:14643388, PMID:14695532, PMID:14972326, PMID:15048888, PMID:15121988, PMID:15145338, PMID:15366815, PMID:15466083, PMID:15501829, PMID:15668445, PMID:15985590, PMID:15986226, PMID:16433701, PMID:16478160, PMID:16531044, PMID:16580018, PMID:16702877, PMID:16737883, PMID:16782080, PMID:16838077, PMID:16857770, PMID:16860134, PMID:16917947, PMID:17027861, PMID:17041744, PMID:17056254, PMID:17092519, PMID:17151339, PMID:17210890, PMID:17213836, PMID:17573812, PMID:17616415, PMID:17643989, PMID:17723315, PMID:17805474, PMID:17853454, PMID:17915575, PMID:18176891, PMID:18211760, PMID:18285536, PMID:18301443, PMID:18414213, PMID:18425781, PMID:18429042, PMID:18434155, PMID:18458862, PMID:18495398, PMID:18505979, PMID:18535739, PMID:18607768, PMID:18757064, PMID:18995995, PMID:19046416, PMID:19067231, PMID:19343043, PMID:19472353, PMID:19542901, PMID:19588081, PMID:19609281, PMID:19775921, PMID:19790257, PMID:19862843, PMID:19948615, PMID:20033296, PMID:20080426, PMID:20202878, PMID:20301438, PMID:20308911, PMID:20472203, PMID:20559845, PMID:20638881, PMID:20817528, PMID:20826098, PMID:20830524, PMID:21039225, PMID:21109266, PMID:21179066, PMID:21216089, PMID:21228398, PMID:21232767, PMID:21439876, PMID:21471980, PMID:21484825, PMID:21488291, PMID:21488292, PMID:21550241, PMID:21605996, PMID:21631931, PMID:21637107, PMID:21644219, PMID:21676566, PMID:21687968, PMID:21704464, PMID:21757382, PMID:21803581, PMID:21889385, PMID:21920843, PMID:21926084, PMID:21940687, PMID:21963784, PMID:21972175, PMID:21982629, PMID:21984055, PMID:22027144, PMID:22081099, PMID:22194990, PMID:22196155, PMID:22237443, PMID:22252923, PMID:22253258, PMID:22521436, PMID:22538254, PMID:22555271, PMID:22595200, PMID:22613277, PMID:22644586, PMID:22658377, PMID:22676651, PMID:22704482, PMID:22711147, PMID:22791670, PMID:22958975, PMID:22980766, PMID:22990675, PMID:23000108, PMID:23013746, PMID:23062590, PMID:23146291, PMID:23147228, PMID:23160972, PMID:23266370, PMID:23350563, PMID:23402890, PMID:23418865, PMID:23430493, PMID:23430847, PMID:23430912, PMID:23430949, PMID:23463700, PMID:23531252, PMID:23566438, PMID:23601496, PMID:23632029, PMID:23632174, PMID:23668440, PMID:23757202, PMID:23787031, PMID:23825616, PMID:23843830, PMID:23884227, PMID:24008051, PMID:24008937, PMID:24011652, PMID:24016645, PMID:24027232, PMID:24033266, PMID:24107549, PMID:24150945, PMID:24158270, PMID:24169249, PMID:24190153, PMID:24215330, PMID:24245577, PMID:24269976, PMID:24273659, PMID:24337590, PMID:24338761, PMID:24383498, PMID:24384324, PMID:24395639, PMID:24444888, PMID:24495340, PMID:24513544, PMID:24590251, PMID:24627108, PMID:24715333, PMID:24844452, PMID:24872213, PMID:24923245, PMID:24976573, PMID:25026126, PMID:25036864, PMID:25037089, PMID:25052852, PMID:25093132, PMID:25103075, PMID:25139343, PMID:25155446, PMID:25213570, PMID:25243733, PMID:25326635, PMID:25356970, PMID:25388776, PMID:25396301, PMID:25409744, PMID:25451853, PMID:25455803, PMID:25466677, PMID:25488666, PMID:25525159, PMID:25526786, PMID:25544546, PMID:25612604, PMID:25614309, PMID:25626711, PMID:25673129, PMID:25681614, PMID:25687635, PMID:25703594, PMID:25712382, PMID:25741864, PMID:25741868, PMID:25752415, PMID:25783438, PMID:25786784, PMID:25846667, PMID:25998610, PMID:26031770, PMID:26160551, PMID:26167453, PMID:26199952, PMID:26231297, PMID:26253708, PMID:26310554, PMID:26349193, PMID:26497565, PMID:26572913, PMID:26575883, PMID:26693141, PMID:26830551, PMID:26873529, PMID:26946079, PMID:27008195, PMID:27099502, PMID:27142047, PMID:27170567, PMID:27183828, PMID:27189384, PMID:27193587, PMID:27344650, PMID:27363342, PMID:27417441, PMID:27623443, PMID:27649523, PMID:27666774, PMID:27692865, PMID:27708273, PMID:27711114, PMID:27896092, PMID:27927596, PMID:28032299, PMID:28182897, PMID:28196920, PMID:28394184, PMID:28433475, PMID:28450385, PMID:28490439, PMID:28492532, PMID:28592009, PMID:28600779, PMID:28648663, PMID:28657663, PMID:28763149, PMID:28838325, PMID:28957316, PMID:29044175, PMID:29046207, PMID:29061980, PMID:29122469, PMID:29124014, PMID:29143201, PMID:29149851, PMID:29181627, PMID:29205646, PMID:29289479, PMID:29422078, PMID:29428273, PMID:29451150, PMID:29573408, PMID:29637184, PMID:29653542, PMID:29869463, PMID:30023291, PMID:30049495, PMID:30105547, PMID:30155607, PMID:30214072, PMID:30311386, PMID:30442156, PMID:30510819, PMID:30564623, PMID:30595407, PMID:31076647, PMID:31086307, PMID:31193175, PMID:31254424, PMID:31342611, PMID:31467850, PMID:31510962, PMID:31743840, PMID:32012848, PMID:32317649, PMID:32860008 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
glycoproteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:16200072, PMID:16465621, PMID:16630736, PMID:19634183, PMID:27662472, PMID:28492532 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: I cell disease
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar PMID:15633164, PMID:16094673, PMID:16116615, PMID:16200072, PMID:16465621, PMID:16630736, PMID:18190596, PMID:19197337, PMID:19617216, PMID:19634183, PMID:19659762, PMID:19938078, PMID:20147709, PMID:20301728, PMID:20886637, PMID:20944643, PMID:21416587, PMID:21549105, PMID:23192343, PMID:23566849, PMID:23926388, PMID:24045841, PMID:24375680, PMID:24550498, PMID:24767253, PMID:25107912, PMID:25505245, PMID:25525159, PMID:25741868, PMID:26130485, PMID:26749367, PMID:27180337, PMID:27662472, PMID:27710913, PMID:28095893, PMID:28492532, PMID:29704188, PMID:29872134, PMID:30311386 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC RGD PMID:10712439 RGD:1599045 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Neu1 neuraminidase 1 ISS
ISO
OMIM:256550
ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME
MouseDO
ClinVar
PMID:9054950, PMID:10767332, PMID:11063730, PMID:11279074, PMID:11470272, PMID:11702224, PMID:11829139, PMID:14695530, PMID:15908988, PMID:16712870, PMID:19568825, PMID:24808020, PMID:25153125, PMID:25741868, PMID:26141460, PMID:28492532, PMID:30023283 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
GM1 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 treatment ISO ClinVar Annotator: match by term: GM1 gangliosidosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GM1 gangliosidosis type 2
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:230500
ClinVar
CTD
PMID:1487238, PMID:1907800, PMID:1909089, PMID:1928092, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8213816, PMID:8500799, PMID:8652017, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10839995, PMID:10841810, PMID:11504597, PMID:11511921, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15943552, PMID:15986423, PMID:16314480, PMID:16538002, PMID:16617000, PMID:16626397, PMID:16674934, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17664528, PMID:18524657, PMID:19472408, PMID:20175788, PMID:21214877, PMID:21497194, PMID:21520340, PMID:21637542, PMID:22128166, PMID:22675082, PMID:23151865, PMID:23337983, PMID:23430499, PMID:24033266, PMID:24156116, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26108645, PMID:26169295, PMID:26646981, PMID:26990548, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29352662, PMID:29439846, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30555092, PMID:30809705, PMID:31761138, PMID:10737981, PMID:25964428, PMID:17309651 RGD:1598983, RGD:11086251, RGD:12910453 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar Annotator: match by term: GLB1 DEFICIENCY
ClinVar PMID:16941474, PMID:25741868 NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, UMLS MESH term: Gm1 Gangliosidosis, Type I, with Cardiac Involvement
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1
ClinVar Annotator: match by term: Gm1-gangliosidosis, type I, with cardiac involvement
ClinVar
OMIM
PMID:1487238, PMID:1606711, PMID:1907800, PMID:1909089, PMID:1928092, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8199591, PMID:8213816, PMID:8500799, PMID:8652017, PMID:8922281, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10841810, PMID:11511921, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15943552, PMID:15986423, PMID:16617000, PMID:16626397, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17664528, PMID:18524657, PMID:19472408, PMID:20175788, PMID:21497194, PMID:21520340, PMID:22128166, PMID:22371915, PMID:23337983, PMID:23430499, PMID:23430803, PMID:24156116, PMID:24767253, PMID:25326635, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26169295, PMID:26646981, PMID:28332257, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29160035, PMID:29439846, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30809705, PMID:31761138 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 ClinVar PMID:8198123, PMID:8199591, PMID:21497194, PMID:25741868, PMID:28492532, PMID:29160035 NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2
ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, juvenile type
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2
ClinVar
OMIM
PMID:1353343, PMID:1606711, PMID:1907800, PMID:1909089, PMID:6791574, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8213816, PMID:8652017, PMID:8922281, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10744681, PMID:10839995, PMID:10841810, PMID:11504597, PMID:11511921, PMID:12393180, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15986423, PMID:16314480, PMID:16538002, PMID:16617000, PMID:16626397, PMID:16674934, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17661814, PMID:17664528, PMID:18524657, PMID:18571950, PMID:19472408, PMID:19644515, PMID:20175788, PMID:20920281, PMID:21214877, PMID:21497194, PMID:21520340, PMID:22128166, PMID:22675082, PMID:23046582, PMID:23151865, PMID:23337983, PMID:23430499, PMID:23430803, PMID:23757202, PMID:23831247, PMID:24033266, PMID:24156116, PMID:24767253, PMID:24777551, PMID:25326635, PMID:25326637, PMID:25443580, PMID:25525159, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26108645, PMID:26169295, PMID:26646981, PMID:26766614, PMID:26990548, PMID:27679996, PMID:27750150, PMID:28332257, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29352662, PMID:29439846, PMID:29451896, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30675867, PMID:31761138 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2 ClinVar NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 3
ClinVar Annotator: match by term: Gangliosidosis GM1 type 3
OMIM
ClinVar
PMID:1353343, PMID:1907800, PMID:1909089, PMID:6791574, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8213816, PMID:8652017, PMID:9203065, PMID:10338095, PMID:10737981, PMID:11511921, PMID:12644936, PMID:15714521, PMID:16617000, PMID:16626397, PMID:16941474, PMID:17309651, PMID:17664528, PMID:19472408, PMID:19644515, PMID:20175788, PMID:21520340, PMID:22128166, PMID:23337983, PMID:23430499, PMID:25326637, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26646981, PMID:26766614, PMID:28492532, PMID:28554332, PMID:28716012, PMID:29439846, PMID:30311386 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
GM2 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr10:40,438,394...40,450,927
Ensembl chr10:40,438,356...40,450,930
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696, PMID:1833974, PMID:7717398, PMID:7827134, PMID:8490625, PMID:22789865, PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar Annotator: match by OMIM:272750
OMIM
ClinVar
PMID:174379, PMID:1570834, PMID:1915858, PMID:8244332, PMID:8900233, PMID:10364519, PMID:25558065, PMID:25741868, PMID:26203402, PMID:28492532 NCBI chr10:40,438,394...40,450,927
Ensembl chr10:40,438,356...40,450,930
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938, PMID:1307230, PMID:1830584, PMID:2294750, PMID:2824459, PMID:2848800, PMID:3754980, PMID:8230592, PMID:8352284, PMID:8488832, PMID:8490625, PMID:9073025, PMID:10571007, PMID:11463833, PMID:12108829, PMID:14727180, PMID:15714079, PMID:16088929, PMID:16199656, PMID:16352452, PMID:17412732, PMID:18358410, PMID:19330222, PMID:19858779, PMID:20301397, PMID:20672374, PMID:21228398, PMID:22025593, PMID:22441121, PMID:22723944, PMID:22789865, PMID:22975760, PMID:23852624, PMID:24033266, PMID:24374108, PMID:24518553, PMID:24940364, PMID:25287655, PMID:25557439, PMID:25741868, PMID:27033294, PMID:27896118, PMID:27959697, PMID:28492532, PMID:28503624 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset ClinVar PMID:1532289, PMID:2145759, PMID:2220809, PMID:2278539, PMID:2522660, PMID:2522679, PMID:8328462, PMID:8343225, PMID:8490625, PMID:10852376, PMID:14566483, PMID:15714079, PMID:16088929, PMID:17015493, PMID:17237499, PMID:18490185, PMID:19815695, PMID:20363167, PMID:22006919, PMID:22789865, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, b1 variant ClinVar PMID:1532289 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
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 DNA:mutations
ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
ClinVar Annotator: match by term: Hartnup disease
ClinVar Annotator: match by OMIM:234500
ClinVar
OMIM
PMID:15286787, PMID:15286788, PMID:17555458, PMID:18484095, PMID:19185582, PMID:19472175, PMID:20399395, PMID:24033266, PMID:25741868, PMID:28924877, PMID:15286787 RGD:1600035 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
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
ClinVar Annotator: match by term: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
ClinVar Annotator: match by OMIM:140350
OMIM
ClinVar
PMID:858207, PMID:1130176, PMID:1519651, PMID:10942115, PMID:11073718, PMID:17560158, PMID:25741868, PMID:26226126, PMID:28492532, PMID:30984715 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
JBrowse link
hepatic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA,protein:increased expression:brain, liver,serum: RGD PMID:29518527 RGD:14995926 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Epor erythropoietin receptor IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 IEP
ISO
mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:15929193, PMID:15929193 RGD:6480237 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 IEP
ISO
mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:15929193, PMID:15929193 RGD:6480237 NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 IEP
ISO
mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:15929193, PMID:15929193 RGD:6480237 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Gc GC, vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11510020, PMID:11521994 RGD:5509929 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Glul glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23670786 RGD:10766445 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Insr insulin receptor IEP protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767, PMID:10206825, PMID:10564534 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Nos1 nitric oxide synthase 1 IEP
ISO
protein:increased expression:neocortex
CTD Direct Evidence: marker/mechanism
protein:increased expression:brain
CTD PMID:10206825, PMID:10564534, PMID:17083474, PMID:19763802 RGD:1642151, RGD:5132590 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP RGD PMID:21575628 RGD:5688266 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30940161 RGD:14995440 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492, PMID:16338762 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825, PMID:10564534 NCBI chr 7:124,460,358...124,470,610
Ensembl chr 7:124,460,358...124,470,609
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 chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: Homocystinuria
ClinVar Annotator: match by term: CBS deficiency
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency
ClinVar Annotator: match by OMIM:236200
ClinVar
OMIM
PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7564249, PMID:7581402, PMID:7611293, PMID:7635485, PMID:7762555, PMID:7849717, PMID:7967489, PMID:7981678, PMID:8353501, PMID:8528202, PMID:8554066, PMID:8744616, PMID:8755636, PMID:8803779, PMID:8940271, PMID:8940285, PMID:8990018, PMID:9156316, PMID:9232191, PMID:9266356, PMID:9361025, PMID:9587029, PMID:9590298, PMID:9708897, PMID:9813456, PMID:9864922, PMID:9870207, PMID:9889017, PMID:10215408, PMID:10328723, PMID:10338090, PMID:10363126, PMID:10364517, PMID:10408774, PMID:10531322, PMID:10687314, PMID:10780316, PMID:10807759, PMID:11204591, PMID:11230183, PMID:11343305, PMID:11359213, PMID:11434706, PMID:11524006, PMID:11553052, PMID:11774777, PMID:12007221, PMID:12124992, PMID:12269827, PMID:12379655, PMID:12552044, PMID:12686134, PMID:12815602, PMID:12828591, PMID:14635102, PMID:14722619, PMID:14722927, PMID:14972327, PMID:15087459, PMID:15146473, PMID:15192637, PMID:15365998, PMID:15494741, PMID:15993874, PMID:16205833, PMID:16245937, PMID:16307898, PMID:16375773, PMID:16429402, PMID:16470595, PMID:16479318, PMID:16619244, PMID:16786517, PMID:17069888, PMID:17072863, PMID:17319270, PMID:17327360, PMID:17352495, PMID:17540596, PMID:18201569, PMID:18280597, PMID:18423051, PMID:18454451, PMID:18708589, PMID:18805305, PMID:18950795, PMID:19232736, PMID:19370759, PMID:19429038, PMID:19819175, PMID:19906435, PMID:19914636, PMID:20066033, PMID:20308073, PMID:20455263, PMID:20490928, PMID:20506325, PMID:20567906, PMID:20601281, PMID:20694756, PMID:20821054, PMID:20871414, PMID:21030686, PMID:21062078, PMID:21240075, PMID:21517828, PMID:21520339, PMID:21626167, PMID:21957013, PMID:22002135, PMID:22069143, PMID:22267502, PMID:22333527, PMID:22353391, PMID:22382802, PMID:22612060, PMID:22738154, PMID:22891245, PMID:22977242, PMID:22985361, PMID:23592311, PMID:23733603, PMID:23812867, PMID:23934999, PMID:23974653, PMID:23981774, PMID:24033266, PMID:24138954, PMID:24211323, PMID:24613005, PMID:24990611, PMID:25044645, PMID:25087612, PMID:25197074, PMID:25218699, PMID:25326637, PMID:25331909, PMID:25516723, PMID:25741868, PMID:25939784, PMID:26464485, PMID:26750749, PMID:27243974, PMID:27959664, PMID:28421128, PMID:28488385, PMID:28492532, PMID:28550590, PMID:28583326, PMID:28980096, PMID:29326875, PMID:29352562, PMID:29508359, PMID:29650765, PMID:30246729, PMID:30311386, PMID:30732165, PMID:32245022, PMID:7506602 RGD:1600622 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
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, PMID:19370762, PMID:19700356, PMID:25398587, PMID:25672861, PMID:25689098, PMID:25741868, PMID:26825575, PMID:26990548, PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO
ISS
DNA:missense mutations, nonsense mutations:cds:multiple (human)
OMIM:236200 | OMIM:236250
MouseDO PMID:10679944 RGD:1601421 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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, PMID:25741868, PMID:25856670, PMID:28492532, PMID:28666289, PMID:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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
PMID:10484769, PMID:12555939, PMID:15714522, PMID:24033266, PMID:15714522 RGD:5508189 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 9:26,164,969...26,736,704 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 null
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive
ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8353501, PMID:8528202, PMID:8554066, PMID:8755636, PMID:8803779, PMID:8940271, PMID:8990018, PMID:9156316, PMID:9232191, PMID:9361025, PMID:9587029, PMID:9708897, PMID:9864922, PMID:10215408, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10408774, PMID:10531322, PMID:10807759, PMID:11230183, PMID:11343305, PMID:11359213, PMID:11434706, PMID:12007221, PMID:12124992, PMID:12269827, PMID:12552044, PMID:12686134, PMID:14635102, PMID:14722619, PMID:14722927, PMID:14972327, PMID:15087459, PMID:15146473, PMID:15192637, PMID:15365998, PMID:16245937, PMID:16307898, PMID:16375773, PMID:16479318, PMID:16619244, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19232736, PMID:19819175, PMID:20066033, PMID:20490928, PMID:20506325, PMID:20567906, PMID:21520339, PMID:22069143, PMID:22267502, PMID:22333527, PMID:22612060, PMID:22738154, PMID:23592311, PMID:23974653, PMID:24033266, PMID:24211323, PMID:25044645, PMID:25218699, PMID:25331909, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28488385, PMID:28492532, PMID:28583326, PMID:29650765, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:236270
OMIM
ClinVar
PMID:1060915, PMID:2860337, PMID:6700644, PMID:9501215, PMID:10484769, PMID:12555939, PMID:12971424, PMID:15292234, PMID:15494741, PMID:15714522, PMID:20120036, PMID:22887477, PMID:25526710, PMID:25741868, PMID:25978498, PMID:28492532, PMID:30041674 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
hyperargininemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 susceptibility ISO ClinVar Annotator: match by term: Arginase deficiency
ClinVar Annotator: match by OMIM:207800
ClinVar
OMIM
PMID:480013, PMID:624188, PMID:1463019, PMID:1598908, PMID:2365823, PMID:3658675, PMID:7649538, PMID:7981719, PMID:8902193, PMID:10502833, PMID:11883902, PMID:12052859, PMID:15565656, PMID:18666241, PMID:18957279, PMID:19052914, PMID:19562505, PMID:21310339, PMID:21802329, PMID:22959135, PMID:23859858, PMID:24103480, PMID:24482476, PMID:25741868, PMID:26169240, PMID:26310552, PMID:27038030, PMID:27898091, PMID:28089752, PMID:28492532, PMID:7649538 RGD:1599208 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27056296 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Hyperargininemia
ClinVar Annotator: match by term: Arginase deficiency
ClinVar PMID:624188, PMID:1463019, PMID:1598908, PMID:7649538, PMID:7981719, PMID:8902193, PMID:10502833, PMID:11883902, PMID:12052859, PMID:15565656, PMID:18666241, PMID:18957279, PMID:19052914, PMID:19562505, PMID:21310339, PMID:21802329, PMID:22959135, PMID:23859858, PMID:24103480, PMID:24482476, PMID:25741868, PMID:26169240, PMID:27038030, PMID:27898091, PMID:28089752, PMID:28492532 NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by OMIM:614462
OMIM
ClinVar
PMID:2152680, PMID:22152680, PMID:24334290, PMID:26467025, PMID:27923773, PMID:28492532 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
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 OMIM:238700 OMIM
ClinVar
PMID:934735, PMID:10775527, PMID:23570448, PMID:23890588 NCBI chr 4:50,152,005...50,208,935
Ensembl chr 4:50,152,452...50,200,328
JBrowse link
Hyperphenylalaninemia with Primapterinuria 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, BH4-deficient, D
ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, d
ClinVar Annotator: match by OMIM:264070
OMIM
ClinVar
PMID:8352282, PMID:8618906, PMID:9585615, PMID:24204001, PMID:24848070, PMID:25333069, PMID:25741868, PMID:27246466, PMID:28492532 NCBI chr20:30,689,690...30,696,465
Ensembl chr20:30,690,810...30,696,476
JBrowse link
Hyperphenylalaninemia, BH4-Deficient, B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency
ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B
ClinVar Annotator: match by OMIM:233910
OMIM
ClinVar
PMID:1530300, PMID:7730309, PMID:7869202, PMID:8852666, PMID:9328244, PMID:9667588, PMID:10984668, PMID:12391354, PMID:12707079, PMID:15303002, PMID:15389992, PMID:17044972, PMID:17898029, PMID:18044725, PMID:19332422, PMID:19491146, PMID:23430498, PMID:24033266, PMID:24993959, PMID:25125585, PMID:25398234, PMID:25416181, PMID:25497597, PMID:25741868, PMID:26230973, PMID:26467025, PMID:27185167, PMID:27217339, PMID:27246466, PMID:27313105, PMID:28492532, PMID:30314816 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
Hyperphenylalaninemia, BH4-Deficient, 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 OMIM
ClinVar
PMID:2116088, PMID:7627180, PMID:8326489, PMID:8518287, PMID:9341885, PMID:9744478, PMID:11153907, PMID:24033266, PMID:25741868, PMID:26006720, PMID:28492532 NCBI chr14:70,164,682...70,178,284
Ensembl chr14:70,164,650...70,178,284
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, PMID:26830550 NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265
JBrowse link
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT term browser
Symbol