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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:carbohydrate metabolic disorder
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Accession:DOID:2978 term browser browse the term
Definition:Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.
Synonyms:exact_synonym: Carbohydrate Metabolism, Inborn Error;   Carbohydrate Metabolism, Inborn Errors;   disorder of carbohydrate transport and metabolism;   inborn carbohydrate metabolism disorder;   inborn errors of carbohydrate metabolism
 primary_id: MESH:D002239
 alt_id: RDO:0001064
 xref: OMIM:PS606777
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
carbohydrate metabolic disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO DNA:mutations:multiple (human) RGD PMID:7617578 RGD:2326222 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Khk ketohexokinase ISO RGD PMID:29534502 RGD:13673909 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717
JBrowse link
G Mpi mannose phosphate isomerase ISO CDG Ib, OMIM:602579, DNA:point mutation:exon:R219Q , insertion:exon:116insC RGD PMID:9525984 RGD:1600452 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO protein:decreased activity:multiple (human) RGD PMID:8844009 RGD:2326201 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714
JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10818001 PMID:17878938 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
JBrowse link
G Taldo1 transaldolase 1 ISO Transaldolase deficiency, OMIM:606003 RGD PMID:11283793 RGD:1599293 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO triosephosphate isomerase deficiency RGD PMID:9338582 RGD:1599584 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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:9536098 PMID:16527507 PMID:17576681 PMID:22683713 PMID:23707711 More... NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
JBrowse link
alacrima, achalasia, and impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar Annotator: match by OMIM:615510
OMIM
ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
JBrowse link
alpha-mannosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase
ClinVar Annotator: match by term: Alpha-Mannosidosis
ClinVar Annotator: match by OMIM:248500
OMIM
ClinVar
PMID:724292 PMID:1472354 PMID:4358183 PMID:9158146 PMID:9370301 More... NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
JBrowse link
beta-mannosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:30311386 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:28492532 PMID:30311386 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:28492532 PMID:30311386 NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: beta-Mannosidosis
ClinVar Annotator: match by term: Beta-D-mannosidosis
ClinVar
OMIM
PMID:1499588 PMID:1623631 PMID:2079835 PMID:3762648 PMID:9384606 More... NCBI chr 2:223,910,432...224,002,988
Ensembl chr 2:223,910,432...224,002,983
JBrowse link
biotinidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO ClinVar Annotator: match by term: Biotinidase deficiency
ClinVar Annotator: match by OMIM:253260
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:88555 PMID:1668630 PMID:7550325 PMID:9099842 PMID:9158148 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa
ClinVar PMID:2203258 PMID:8912788 PMID:18414213 PMID:20080426 PMID:23757202 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
childhood onset GLUT1 deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2
ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2, childhood onset
ClinVar Annotator: match by term: Dystonia 18
OMIM
ClinVar
PMID:2344855 PMID:9462754 PMID:10980529 PMID:11076005 PMID:11477212 More... NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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 More... NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
JBrowse link
congenital disorder of glycosylation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 More... NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:25741868 PMID:28492532 NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:32681751 NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:28492532 NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912
JBrowse link
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439
JBrowse link
G Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:25741868 NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302
JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 susceptibility ISO DNA:insertion: ;1031insC
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
RGD
ClinVar
PMID:11901181 PMID:28492532 PMID:11901181 RGD:1599432, RGD:1599432 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
JBrowse link
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:25741868 NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009
JBrowse link
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:24033266 PMID:28492532 NCBI chr 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190
JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:28492532 NCBI chr 1:176,489,795...176,549,455
Ensembl chr 1:176,489,791...176,549,455
JBrowse link
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:28492532 NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:12872255 PMID:18414213 PMID:22304930 PMID:23806237 PMID:25741868 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536
JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:26931382 NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25135935 PMID:25741868 PMID:31036665 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
JBrowse link
G Mroh8 maestro heat-like repeat family member 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:25066056 PMID:25741868 PMID:28492532 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar
RGD
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... RGD:1599134, RGD:1599132 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:28492532 NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:49,225,599...49,248,405
Ensembl chr 5:49,225,602...49,248,335
JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:33964207 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:20852264 PMID:22304929 PMID:25326635 PMID:25741868 PMID:27480077 More... NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
G Ssr3 signal sequence receptor subunit 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:30945312 NCBI chr 2:149,605,005...149,625,069
Ensembl chr 2:149,605,005...149,625,132
JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:28492532 NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717
JBrowse link
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:18455129 PMID:23806237 PMID:25626710 PMID:25741868 PMID:28492532 NCBI chr16:53,196,195...53,345,241
Ensembl chr16:53,196,195...53,344,781
JBrowse link
congenital disorder of glycosylation Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A ClinVar PMID:28492532 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf2 insulin-like growth factor 2 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:19207313 RGD:12910858 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19207313 RGD:12910858 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:212065
OMIM
ClinVar
CTD
PMID:9140401 PMID:9497260 PMID:9536098 PMID:9710598 PMID:9781039 More... NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A ClinVar PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
JBrowse link
congenital disorder of glycosylation Iaa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iaa
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa
ClinVar
OMIM
PMID:25066056 PMID:25741868 PMID:28492532 PMID:29100083 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
JBrowse link
congenital disorder of glycosylation Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: CDG gastrointestinal type
ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B
ClinVar Annotator: match by OMIM:602579
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3080572 PMID:9525984 PMID:9585601 PMID:10484808 PMID:10980531 More... NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
JBrowse link
congenital disorder of glycosylation Ic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C
ClinVar Annotator: match by OMIM:603147
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9536098 PMID:10359825 PMID:10852543 PMID:10914684 PMID:10924277 More... NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439
JBrowse link
congenital disorder of glycosylation Icc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc
OMIM
ClinVar
PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link
congenital disorder of glycosylation Id term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D
ClinVar Annotator: match by OMIM:601110
OMIM
ClinVar
PMID:8552211 PMID:10581255 PMID:15108280 PMID:15840742 PMID:16006436 More... NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912
JBrowse link
congenital disorder of glycosylation Ie term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:608799
OMIM
ClinVar
PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:16641202 More... NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536
JBrowse link
congenital disorder of glycosylation If term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F
ClinVar Annotator: match by OMIM:609180
OMIM
ClinVar
PMID:11733556 PMID:11733564 PMID:25741868 PMID:28492532 PMID:28940310 NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F ClinVar NCBI chr10:54,373,602...54,376,591
Ensembl chr10:54,372,403...54,376,591
JBrowse link
congenital disorder of glycosylation Ig term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G
ClinVar Annotator: match by OMIM:607143
OMIM
ClinVar
PMID:11983712 PMID:12093361 PMID:12217961 PMID:12736397 PMID:15639192 More... NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:25741868 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
JBrowse link
G Creld2 cysteine-rich with EGF-like domains 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543
JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494
JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228
JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737
JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395
JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664
JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
G Mov10l1 Mov10 like RISC complex RNA helicase 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587
JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330
JBrowse link
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805
JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015
JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,000,638...120,046,556 JBrowse link
G Tubgcp6 tubulin, gamma complex associated protein 6 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
congenital disorder of glycosylation Ih term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H
ClinVar Annotator: match by OMIM:608104
OMIM
ClinVar
PMID:12480927 PMID:15235028 PMID:16199547 PMID:19862844 PMID:25428507 More... NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302
JBrowse link
congenital disorder of glycosylation Ii term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I
ClinVar Annotator: match by OMIM:607906
OMIM
ClinVar
PMID:12684507 PMID:25741868 PMID:28492532 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:24033266 PMID:25741868 PMID:26833332 PMID:29759592 NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946
JBrowse link
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:25741868 PMID:26833330 NCBI chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108
JBrowse link
congenital disorder of glycosylation Ij term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J
ClinVar Annotator: match by OMIM:608093
OMIM
ClinVar
PMID:9536098 PMID:12872255 PMID:17576681 PMID:18414213 PMID:22304930 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
JBrowse link
congenital disorder of glycosylation Ik term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: CDG Ik
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K
ClinVar Annotator: match by OMIM:608540
OMIM
ClinVar
PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 More... NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K ClinVar PMID:14709599 PMID:22966035 PMID:25741868 PMID:26931382 PMID:28492532 NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039
JBrowse link
congenital disorder of glycosylation Il term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
ClinVar Annotator: match by OMIM:608776
OMIM
ClinVar
PMID:9536098 PMID:15148656 PMID:15945070 PMID:17576681 PMID:25741868 More... NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18157129 PMID:19321599 More... NCBI chr12:31,949,863...31,979,777 JBrowse link
congenital disorder of glycosylation Im term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dolk dolichol kinase ISO ClinVar Annotator: match by OMIM:610768
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M
ClinVar
OMIM
PMID:17273964 PMID:22242004 PMID:23806237 PMID:23890587 PMID:24033266 More... NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M ClinVar NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
JBrowse link
congenital disorder of glycosylation In term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N
ClinVar Annotator: match by OMIM:612015
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18313027 PMID:19701946 PMID:19856127 More... NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
JBrowse link
congenital disorder of glycosylation Ip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P
ClinVar Annotator: match by OMIM:613661
OMIM
ClinVar
PMID:20080937 PMID:22213132 PMID:25741868 PMID:28492532 PMID:30676690 NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P ClinVar PMID:25741868 PMID:28492532 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
congenital disorder of glycosylation Iq term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q
ClinVar Annotator: match by OMIM:612379
OMIM
ClinVar
PMID:20637498 PMID:20852264 PMID:22304929 PMID:25326635 PMID:25741868 More... NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
congenital disorder of glycosylation Ir term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22305527 PMID:25741868 PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
congenital disorder of glycosylation It term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgm1 phosphoglucomutase 1 ISO ClinVar Annotator: match by OMIM:614921
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t
ClinVar Annotator: match by term: CDG It
ClinVar Annotator: match by term: Glycogen storage disease XIV
ClinVar
OMIM
PMID:16199547 PMID:19625727 PMID:22492991 PMID:24499211 PMID:25288802 More... NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
JBrowse link
congenital disorder of glycosylation Iu term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,674,577...15,677,393
Ensembl chr 3:15,674,580...15,677,374
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,658,479...15,675,716
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar Annotator: match by OMIM:615042
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19901254 PMID:23109149 More... NCBI chr 3:15,855,952...15,858,867 JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,823,147...15,854,651
Ensembl chr 3:15,823,144...15,854,643
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,742,337...15,747,672
Ensembl chr 3:15,742,919...15,747,669
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:15,894,278...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:16,048,566...16,053,198
Ensembl chr 3:16,048,549...16,052,634
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:16,048,484...16,064,598
Ensembl chr 3:16,048,565...16,064,547
JBrowse link
congenital disorder of glycosylation Iw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w OMIM
ClinVar
PMID:23842455 PMID:25741868 PMID:28424003 NCBI chr 8:36,443,623...36,483,111 JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x
ClinVar Annotator: match by OMIM:615597
OMIM
ClinVar
PMID:23842455 PMID:25741868 PMID:28492532 NCBI chr 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028
JBrowse link
congenital disorder of glycosylation Iy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y OMIM
ClinVar
PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by OMIM:612937
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O
ClinVar
OMIM
PMID:19576565 PMID:28492532 PMID:28803818 PMID:29246662 PMID:31266720 More... NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668
JBrowse link
congenital disorder of glycosylation type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmm2 phosphomannomutase 2 ISS OMIM:212065 | OMIM:300884 | OMIM:300934 | OMIM:601110 | OMIM:602579 | OMIM:603147 | OMIM:607143 | OMIM:607906 | OMIM:608093 | OMIM:608104 | OMIM:608540 | OMIM:608776 | OMIM:608799 | OMIM:609180 | OMIM:610768 | OMIM:612015 | OMIM:612379 | OMIM:612937 | OMIM:613661 | OMIM:614507 | OMIM:614921 | OMIM:615042 | OMIM:615596 | OMIM:615597 | OMIM:616457 MouseDO NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
congenital disorder of glycosylation type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii ClinVar PMID:12684507 PMID:25741868 PMID:28492532 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
congenital disorder of glycosylation type IIa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa ClinVar PMID:28492532 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa
ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II
ClinVar Annotator: match by OMIM:212066
OMIM
ClinVar
PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 More... NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
JBrowse link
congenital disorder of glycosylation type IIb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mogs mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B
ClinVar Annotator: match by OMIM:606056
OMIM
ClinVar
PMID:10788335 PMID:24716661 PMID:25741868 PMID:26805780 PMID:28492532 More... NCBI chr 4:115,621,623...115,625,026
Ensembl chr 4:115,621,623...115,625,032
JBrowse link
congenital disorder of glycosylation type IIc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
JBrowse link
G Agbl2 AGBL carboxypeptidase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,764,893...76,800,071
Ensembl chr 3:76,764,238...76,800,214
JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455
JBrowse link
G Arhgap1 Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,621,377...77,643,400
Ensembl chr 3:77,620,655...77,643,396
JBrowse link
G Atg13 autophagy related 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,647,069...77,681,028
Ensembl chr 3:77,645,790...77,681,043
JBrowse link
G C1qtnf4 C1q and TNF related 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,854,368...76,872,991
Ensembl chr 3:76,857,735...76,874,139
JBrowse link
G Celf1 CUGBP, Elav-like family member 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,924,591...76,999,429
Ensembl chr 3:76,924,613...76,999,426
JBrowse link
G Chrm4 cholinergic receptor, muscarinic 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159
JBrowse link
G Ckap5 cytoskeleton associated protein 5 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,491,195...77,593,300
Ensembl chr 3:77,491,276...77,593,264
JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fam180b family with sequence similarity 180 member B ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532
G Fnbp4 formin binding protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,733,012...76,763,077
Ensembl chr 3:76,733,027...76,763,079
JBrowse link
G Harbi1 harbinger transposase derived 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,681,431...77,689,749
Ensembl chr 3:77,681,431...77,689,724
JBrowse link
G Kbtbd4 kelch repeat and BTB domain containing 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,883,671...76,890,799
Ensembl chr 3:76,883,014...76,890,799
JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
JBrowse link
G Mdk midkine ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,901,156...77,903,997
Ensembl chr 3:77,901,158...77,903,130
JBrowse link
G Mtch2 mitochondrial carrier 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,830,549...76,850,189
Ensembl chr 3:76,830,413...76,850,189
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
JBrowse link
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565
JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
JBrowse link
G Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,889,922...76,899,427
Ensembl chr 3:76,889,922...76,899,427
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
G RGD1309540 similar to hypothetical protein MGC40841; similar to hypothetical protein MGC4707 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274
JBrowse link
G RGD1563263 similar to RIKEN cDNA 1700029I15 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO DNA:missense mutations:cds:p.R147C, p.T308R (human)
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C
ClinVar Annotator: match by OMIM:266265
ClinVar
OMIM
RGD
PMID:1279426 PMID:11213799 PMID:11326279 PMID:11326280 PMID:12116250 More... RGD:1599002 NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,615,595...77,621,325 JBrowse link
congenital disorder of glycosylation type IId term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11901181 PMID:25741868 PMID:28492532 PMID:30653653 PMID:32157688 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
JBrowse link
congenital disorder of glycosylation type IIe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2E
ClinVar Annotator: match by OMIM:608779
OMIM
ClinVar
PMID:15107842 PMID:17356545 PMID:17395513 PMID:19577670 PMID:21811164 More... NCBI chr 1:176,489,795...176,549,455
Ensembl chr 1:176,489,791...176,549,455
JBrowse link
congenital disorder of glycosylation type IIf term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: CDG IIf ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: CDG IIf
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F
OMIM
ClinVar
PMID:23873973 PMID:24033266 PMID:25552652 PMID:25741868 PMID:28492532 More... NCBI chr 5:49,225,599...49,248,405
Ensembl chr 5:49,225,602...49,248,335
JBrowse link
congenital disorder of glycosylation type IIg term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G
ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME
ClinVar Annotator: match by OMIM:611209
OMIM
ClinVar
PMID:9536098 PMID:16537452 PMID:17576681 PMID:19008299 PMID:23757202 More... NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292
JBrowse link
G Fam104a family with sequence similarity 104, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G ClinVar PMID:25741868 PMID:28492532 NCBI chr10:98,707,404...98,728,486
Ensembl chr10:98,707,410...98,728,728
JBrowse link
congenital disorder of glycosylation type IIh term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H
ClinVar Annotator: match by OMIM:611182
OMIM
ClinVar
PMID:17220172 PMID:17331980 PMID:23806237 PMID:25741868 PMID:28492532 More... NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H ClinVar PMID:25741868 NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
JBrowse link
congenital disorder of glycosylation type IIi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i
ClinVar Annotator: match by OMIM:613612
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19690088 PMID:23228021 PMID:23430875 More... NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009
JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i ClinVar NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787
JBrowse link
congenital disorder of glycosylation type IIj term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2J
ClinVar Annotator: match by OMIM:613489
OMIM
ClinVar
PMID:8074143 PMID:16199547 PMID:19494034 PMID:19651599 PMID:21185756 More... NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
JBrowse link
congenital disorder of glycosylation type IIk term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2k
ClinVar Annotator: match by OMIM:614727
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22683087 PMID:25741868 PMID:28492532 NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717
JBrowse link
congenital disorder of glycosylation type IIl term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2L
ClinVar Annotator: match by OMIM:614576
OMIM
ClinVar
PMID:20605848 PMID:23430903 PMID:23606727 PMID:24033266 PMID:24667118 More... NCBI chr 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566
JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by OMIM:300896
OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:26350515 More... NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:141,793,695...141,795,558 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275
JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,362,479...14,373,727
Ensembl chr  X:14,362,860...14,373,727
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
congenital disorder of glycosylation type IIn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: SLC39A8-CDG
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
OMIM
ClinVar
PMID:2809732 PMID:25741868 PMID:26637978 PMID:26637979 PMID:28492532 More... NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129
JBrowse link
congenital disorder of glycosylation type IIo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
ClinVar Annotator: match by term: CCDC115-CDG
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:26833332 PMID:29759592 NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946
JBrowse link
congenital disorder of glycosylation type IIp term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
ClinVar Annotator: match by term: TMEM199-CDG
ClinVar
OMIM
PMID:19067230 PMID:25741868 PMID:26833330 NCBI chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108
JBrowse link
congenital disorder of glycosylation type IIq term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq ClinVar
OMIM
PMID:24784932 PMID:25741868 PMID:28492532 NCBI chr19:52,493,901...52,532,667
Ensembl chr19:52,493,932...52,526,874
JBrowse link
Congenital Disorder of Glycosylation Type IIr term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr
OMIM
ClinVar
PMID:25741868 PMID:29127204 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
Congenital Disorder of Glycosylation Type IIt term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit
ClinVar
OMIM
PMID:25741868 PMID:27508872 PMID:28097321 PMID:32293671 NCBI chr19:52,213,226...52,324,816
Ensembl chr19:52,213,351...52,324,813
JBrowse link
Congenital Disorder of Glycosylation Type IIv term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2V ClinVar
OMIM
PMID:34143952 NCBI chr13:63,858,282...63,920,538
Ensembl chr13:63,858,716...63,920,523
JBrowse link
Congenital Disorder of Glycosylation Type IIw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc37a4 solute carrier family 37 member 4 ISO OMIM NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
Congenital Disorder of Glycosylation with Defective Fucosylation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:29304374 NCBI chr 6:95,948,230...96,176,677
Ensembl chr 6:95,949,991...96,176,677
JBrowse link
Congenital Disorder of Glycosylation with Defective Fucosylation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 OMIM
ClinVar
PMID:25741868 PMID:30503518 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
JBrowse link
congenital lactase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lct lactase ISO ClinVar Annotator: match by term: Congenital lactase deficiency
ClinVar Annotator: match by OMIM:223000
OMIM
ClinVar
PMID:16400612 PMID:19161632 PMID:22688420 PMID:23103231 PMID:25741868 More... NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456
JBrowse link
congenital sucrase-isomaltase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Si sucrase-isomaltase ISO ClinVar Annotator: match by term: Sucrase-isomaltase deficiency
ClinVar Annotator: match by OMIM:222900
OMIM
ClinVar
PMID:8609217 PMID:10903344 PMID:11340066 PMID:14724820 PMID:16329100 More... NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260
JBrowse link
D-glyceric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glyctk glycerate kinase ISO ClinVar Annotator: match by term: D-Glyceric aciduria
ClinVar Annotator: match by term: GLYCERATE KINASE DEFICIENCY
ClinVar Annotator: match by OMIM:220120
OMIM
ClinVar
PMID:4434100 PMID:20949620 PMID:25741868 PMID:28492532 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397
JBrowse link
Danon disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
IMP
ClinVar Annotator: match by term: Danon disease
ClinVar Annotator: match by term: Glycogen storage cardiomyopathy
ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb
in hemizygote mutant male (LAMP2y/-)
ClinVar Annotator: match by OMIM:300257
OMIM
ClinVar
RGD
PMID:3087571 PMID:6408499 PMID:6450334 PMID:7919972 PMID:8504498 More... RGD:13703117 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G LOC100364002 reproductive homeobox 9-like ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,560,244...116,562,636 JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
G Rhox10 reproductive homeobox 10 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,850,460...116,854,898
Ensembl chr  X:116,850,460...116,854,941
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,428,037...116,429,164
Ensembl chr  X:116,427,684...116,433,762
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236
JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023
JBrowse link
developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar Annotator: match by term: CDG Is
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is
ClinVar Annotator: match by OMIM:300884
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22492991 PMID:23033978 PMID:23934111 More... NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar PMID:28492532 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
developmental and epileptic encephalopathy 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 50
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1z
OMIM
ClinVar
PMID:25678555 PMID:25741868 PMID:28007989 PMID:28492532 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
essential fructosuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cgref1 cell growth regulator with EF hand domain 1 ISO ClinVar Annotator: match by term: Fructosuria, essential ClinVar PMID:28492532 NCBI chr 6:25,431,846...25,443,853
Ensembl chr 6:25,431,799...25,443,852
JBrowse link
G Khk ketohexokinase ISO ClinVar Annotator: match by term: Fructosuria, essential
ClinVar Annotator: match by OMIM:229800
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:7833921 PMID:9799106 PMID:18035330 PMID:19237742 PMID:28492532 More... RGD:13782360 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717
JBrowse link
Familial Cirrhosis with Deposition of Abnormal Glycogen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen ClinVar PMID:8247964 PMID:8613547 PMID:9851430 PMID:10384399 PMID:10762170 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
JBrowse link
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 OMIM
ClinVar
PMID:1021286 PMID:7716548 PMID:8650576 PMID:8751851 PMID:8923011 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 ClinVar PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2
OMIM
ClinVar
PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3
ClinVar Annotator: match by OMIM:602485
OMIM
ClinVar
PMID:7555485 PMID:8068341 PMID:8349034 PMID:8433729 PMID:8454109 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by OMIM:609975
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
ClinVar
OMIM
PMID:904979 PMID:11489939 PMID:14693719 PMID:19318379 PMID:21252247 More... NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5
ClinVar Annotator: match by OMIM:609968
OMIM
ClinVar
PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome
ClinVar Annotator: match by OMIM:606762
OMIM
ClinVar
PMID:9469993 PMID:9571255 PMID:9843361 PMID:10636977 PMID:10871207 More... NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
JBrowse link
familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Exercise-induced hyperinsulinism
ClinVar Annotator: match by term: Exercise-induced hyperinsulinemic hypoglycemia
ClinVar Annotator: match by OMIM:610021
OMIM
ClinVar
PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 More... NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar Annotator: match by term: G6PD MINNESOTA
ClinVar Annotator: match by term: G6PD A-
ClinVar Annotator: match by term: G6PD MALAGA
ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: G6PD AURES
CTD
ClinVar
OMIM
PMID:5448 PMID:16832 PMID:848857 PMID:1303173 PMID:1303182 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar PMID:8471773 PMID:10502785 PMID:11601226 PMID:16329560 PMID:28492532 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
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:16199547 PMID:17050673 PMID:18414213 More... NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
fructose-1,6-bisphosphatase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldob aldolase, fructose-bisphosphate B ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:1772121 PMID:1856829 PMID:1928090 PMID:1967768 PMID:2203259 More... NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Fructose-biphosphatase deficiency ClinVar PMID:20096397 PMID:22402862 PMID:22980763 PMID:23041008 PMID:23606453 More... NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO DNA:insertion, DNA:point mutations:G164S, A177D, Q30X
ClinVar Annotator: match by term: Fructose-biphosphatase deficiency
ClinVar Annotator: match by OMIM:229700
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:7763253 PMID:9382095 PMID:11286391 PMID:12126934 PMID:19259699 More... RGD:1601165 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071
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:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
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
RGD
PMID:1214294 PMID:1281988 PMID:2012122 PMID:2642067 PMID:2803224 More... RGD:1598969 NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
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 More... NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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 More... NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
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 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Cryaa crystallin, alpha A IEP mRNA:decreased expression:lens RGD PMID:1707863 RGD:1600994 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP Protein:increased expression:lens epithelium RGD PMID:16936110 RGD:1599728 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Gale UDP-galactose-4-epimerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388
JBrowse link
G Galk1 galactokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670469 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
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 More... NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Galactosemia, classic ClinVar PMID:17079880 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome
ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome
ClinVar
OMIM
PMID:25741868 PMID:25966638 PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
Glucose-Galactose Malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption OMIM
ClinVar
PMID:2008213 PMID:8844006 PMID:9309206 PMID:9536098 PMID:9815014 More... NCBI chr14:77,553,990...77,618,589
Ensembl chr14:77,553,843...77,618,547
JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by synonym: Hemolytic anemia due to G6PD deficiency
ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: G6PD WALTER REED
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:5448 PMID:16832 PMID:472761 PMID:848857 PMID:1303173 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar PMID:8471773 PMID:10502785 PMID:11601226 PMID:16329560 PMID:28492532 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human)
RGD PMID:15718915 PMID:15718915 RGD:11049178, RGD:11049178 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
GLUT1 Deficiency Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847
JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659
JBrowse link
G RGD1564804 similar to chromosome 1 open reading frame 50 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,837,135...132,841,744
Ensembl chr 5:132,836,506...132,841,762
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive
ClinVar Annotator: match by term: Glucose transporter protein syndrome
ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome
DNA:deletions: :multiple
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glut1 deficiency syndrome 1, autosomal recessive
ClinVar
CTD
OMIM
RGD
PMID:2344855 PMID:8808284 PMID:9335548 PMID:9462754 PMID:9536098 More... RGD:1624245, RGD:12879476, RGD:12879473, RGD:12879464 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735
JBrowse link
G Zfp691 zinc finger protein 691 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,780,259...132,784,954
Ensembl chr 5:132,780,181...132,785,000
JBrowse link
glycerol kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gk glycerol kinase ISO DNA:deletion
ClinVar Annotator: match by term: Deficiency of glycerol kinase
ClinVar
OMIM
RGD
PMID:8651297 PMID:9719371 PMID:10736265 PMID:10737976 PMID:25741868 More... RGD:1601343 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
glycogen storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:8990006 PMID:9412782 PMID:17994282 PMID:20071996 PMID:20490926 More... NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 More... NCBI chr10:86,307,400...86,318,766 JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:7981676 PMID:9535769 PMID:17092519 PMID:18458862 PMID:19790257 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:9851430 PMID:15452297 PMID:16199547 PMID:19813197 PMID:20058079 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
JBrowse link
G Gys2 glycogen synthase 2 ISO Glycogen storage disease type 0, OMIM:240600
ClinVar Annotator: match by term: Glycogen storage disease
ClinVar
RGD
PMID:9691087 PMID:12072888 PMID:20051115 PMID:24033266 PMID:25070466 More... RGD:1600764 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228
JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:7825568 PMID:8037209 PMID:8880699 PMID:9389749 PMID:24033266 More... NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO DNA:missense mutation RGD PMID:12825073 RGD:1599893 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO glycogen storage disease IXa,OMIM:306000;DNA:point mutations,deletion,insertion
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7711737 PMID:7711737 RGD:1601388 NCBI chr  X:34,170,959...34,293,498 JBrowse link
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 IAGP
ISO
DNA:missense mutation:cds:p.D215N (rat)
DNA:insertion, missense mutations:multiple (human)
RGD PMID:8896567 PMID:8896567 RGD:737724, RGD:737724 NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO RGD PMID:15877279 RGD:1580717 NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
JBrowse link
G Pygl glycogen phosphorylase L ISO RGD PMID:9536091 RGD:1599374 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO Fanconi-Bickel syndrome,OMIM:227810;DNA:point mutation:exon:p.R365X (human) RGD PMID:9354798 RGD:1624253 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:9758626 PMID:10026167 PMID:10323254 PMID:10482962 PMID:10923042 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
Glycogen Storage Disease 0, Liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gys2 glycogen synthase 2 ISO ClinVar Annotator: match by term: Hypoglycemia with deficiency of glycogen synthetase in the liver
ClinVar Annotator: match by OMIM:240600
OMIM
ClinVar
PMID:106027 PMID:141912 PMID:8534634 PMID:9691087 PMID:12072888 More... NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228
JBrowse link
Glycogen Storage Disease 0, Muscle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO ClinVar Annotator: match by term: Glycogen storage disease 0, muscle ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease 0, muscle
ClinVar Annotator: match by OMIM:611556
OMIM
ClinVar
PMID:9267990 PMID:9389424 PMID:9536098 PMID:10102713 PMID:16199547 More... NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
JBrowse link
glycogen storage disease I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency
ClinVar Annotator: match by term: Glycogen storage disease, type I
CTD
ClinVar
PMID:2172641 PMID:7525963 PMID:7573034 PMID:7623438 PMID:7655466 More... NCBI chr10:86,307,400...86,318,766 JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency ClinVar NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,496
Ensembl chr12:42,159,089...42,172,490
JBrowse link
G Slc37a4 solute carrier family 37 member 4 TAS
ISO
ISS
ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency
ClinVar Annotator: match by term: Glycogen storage disease, type I
OMIM:232200 | OMIM:232220 | OMIM:232240
ClinVar
MouseDO
RGD
PMID:9758626 PMID:10482962 PMID:10923042 PMID:10940311 PMID:12444104 More... RGD:61591 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
Glycogen Storage Disease IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc1 glucose-6-phosphatase catalytic subunit 1 treatment ISO ClinVar Annotator: match by term: Hepatorenal glycogenosis
ClinVar Annotator: match by term: GSD Ia
ClinVar Annotator: match by term: Glycogen storage disease type 1A
DNA:SNP:exon:727G>T (human)
human gene in a mouse model
ClinVar Annotator: match by OMIM:232200
OMIM
ClinVar
RGD
PMID:2172641 PMID:7525963 PMID:7573034 PMID:7623438 PMID:7655466 More... RGD:14695549, RGD:14695538, RGD:14695534 NCBI chr10:86,307,400...86,318,766 JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Hepatorenal glycogenosis ClinVar NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,496
Ensembl chr12:42,159,089...42,172,490
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Hepatorenal glycogenosis ClinVar PMID:20578944 PMID:25741868 PMID:28492532 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
Glycogen Storage Disease IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO DNA:missense mutation:cds:p.G339C (human)
ClinVar Annotator: match by term: Glycogen storage disease Ib
ClinVar Annotator: match by term: Glucose-6-phosphate transport defect
ClinVar Annotator: match by term: GSD Ib
ClinVar Annotator: match by OMIM:232220
ClinVar
OMIM
RGD
PMID:9428641 PMID:9536098 PMID:9598717 PMID:9675154 PMID:9758626 More... RGD:1599000 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
JBrowse link
Glycogen Storage Disease IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: GSD Ic
ClinVar Annotator: match by OMIM:232240
OMIM
ClinVar
PMID:9598717 PMID:9675154 PMID:9758626 PMID:10026167 PMID:10323254 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
glycogen storage disease II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: AMD ClinVar PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 PMID:10634594