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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.


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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 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Khk ketohexokinase ISO RGD PMID:29534502 RGD:13673909 NCBI chr 6:26,810,577...26,821,013
Ensembl chr 6:26,810,579...26,820,959
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 8:62,324,176...62,332,080
Ensembl chr 8:62,324,092...62,332,115
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO protein:decreased activity:multiple (human) RGD PMID:8844009 RGD:2326201 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
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 9:81,999,368...82,008,620
Ensembl chr 9:81,999,376...82,008,620
JBrowse link
G Taldo1 transaldolase 1 ISO Transaldolase deficiency, OMIM:606003 RGD PMID:11283793 RGD:1599293 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO triosephosphate isomerase deficiency RGD PMID:9338582 RGD:1599584 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by OMIM:614739
OMIM
ClinVar
PMID:16527507, PMID:22683713, PMID:23707711, PMID:24033266, PMID:24997715, PMID:25016221, PMID:25741868, PMID:28482397, PMID:28492532, PMID:28778788, PMID:28916646, PMID:32313153 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
JBrowse link
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 term: Alpha-Mannosidosis
ClinVar Annotator: match by OMIM:248500
OMIM
ClinVar
PMID:724292, PMID:1472354, PMID:4358183, PMID:7307317, PMID:9158146, PMID:9370301, PMID:9758606, PMID:9915946, PMID:11959458, PMID:12634058, PMID:12816222, PMID:14765545, PMID:15035660, PMID:15712269, PMID:16919251, PMID:17979865, PMID:18414213, PMID:18651971, PMID:19958498, PMID:20165920, PMID:20301570, PMID:21505070, PMID:22161967, PMID:23613340, PMID:24033266, PMID:24353136, PMID:24767253, PMID:25741868, PMID:25762455, PMID:26048034, PMID:26633546, PMID:27959697, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr19:26,196,797...26,216,981
Ensembl chr19:26,196,837...26,216,267
JBrowse link
beta-mannosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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, PMID:12468273, PMID:12890191, PMID:16401745, PMID:16904924, PMID:17420068, PMID:18565776, PMID:19728872, PMID:22369051, PMID:24033266, PMID:25741867, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30872814 NCBI chr 2:240,668,213...240,760,264
Ensembl chr 2:240,668,195...240,760,261
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:9099842, PMID:9158148, PMID:9232193, PMID:9375914, PMID:9396567, PMID:9506660, PMID:9654207, PMID:9705240, PMID:10206677, PMID:10394193, PMID:10400129, PMID:10655158, PMID:10801053, PMID:10801060, PMID:11313766, PMID:11380987, PMID:11668630, PMID:11865279, PMID:12227467, PMID:12359137, PMID:12618081, PMID:13680408, PMID:14628140, PMID:14707518, PMID:15059618, PMID:15060693, PMID:15776412, PMID:16435182, PMID:17185019, PMID:17382128, PMID:18645204, PMID:18845537, PMID:19728141, PMID:19757147, PMID:20083419, PMID:20224900, PMID:20539236, PMID:20549359, PMID:20556795, PMID:20981092, PMID:21228398, PMID:21752405, PMID:21907891, PMID:22011816, PMID:22106832, PMID:22241090, PMID:22698809, PMID:22863189, PMID:22975760, PMID:22995991, PMID:23481307, PMID:23644139, PMID:23971085, PMID:24033266, PMID:24066991, PMID:24516753, PMID:24525934, PMID:24797656, PMID:24932929, PMID:25087612, PMID:25144890, PMID:25174816, PMID:25333069, PMID:25423671, PMID:25741868, PMID:25754625, PMID:25967232, PMID:26334177, PMID:26361991, PMID:26467025, PMID:26577040, PMID:26589311, PMID:26635394, PMID:26656798, PMID:26810761, PMID:27014582, PMID:27207447, PMID:27329734, PMID:27533158, PMID:27535533, PMID:27625817, PMID:27629047, PMID:27657684, PMID:27760515, PMID:27845546, PMID:28492532, PMID:28498829, PMID:28971021, PMID:29353266, PMID:29359854, PMID:29995633, PMID:30311386, PMID:30912303, PMID:31337602 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa
ClinVar PMID:2203258, PMID:8912788, PMID:16838077, PMID:18414213, PMID:20080426, PMID:23430949, PMID:23757202, PMID:25243733, PMID:25525159, PMID:25741868, PMID:27623443, PMID:28196920, PMID:28492532, PMID:30311386 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
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:1714544, PMID:9462754, PMID:10766892, PMID:10980529, PMID:11076005, PMID:11477212, PMID:12325075, PMID:12752470, PMID:14605501, PMID:16949238, PMID:17052934, PMID:18403583, PMID:18414213, PMID:18451999, PMID:18577546, PMID:18606970, PMID:19630075, PMID:19798636, PMID:19901175, PMID:19996082, PMID:20129935, PMID:20221955, PMID:20417043, PMID:20687207, PMID:21069159, PMID:21135204, PMID:21555602, PMID:21791420, PMID:21832227, PMID:22492876, PMID:23106342, PMID:23280796, PMID:23306390, PMID:23443458, PMID:23448551, PMID:24963779, PMID:25326635, PMID:25487684, PMID:25564316, PMID:25741868, PMID:26193382, PMID:26216499, PMID:26304067, PMID:26336901, PMID:26537434, PMID:26598494, PMID:26615598, PMID:27351150, PMID:28492532, PMID:31605543 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
classic galactosemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Galactosemia, classic
ClinVar Annotator: match by term: Galactose-1-phosphate uridyltransferase deficiency
ClinVar
OMIM
PMID:2011574, PMID:4759900, PMID:7550229, PMID:8198125, PMID:8892021, PMID:9012409, PMID:9222760, PMID:9450900, PMID:10424825, PMID:10649501, PMID:11152465, PMID:11261429, PMID:11286503, PMID:11479743, PMID:11754113, PMID:19224951, PMID:19581158, PMID:20301691, PMID:21228398, PMID:22963887, PMID:24718839, PMID:25087612, PMID:25473725, PMID:25592817, PMID:25614870, PMID:25741868, PMID:28492532, PMID:29261178 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
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, PMID:24033266, PMID:25741868, PMID:25956699, PMID:26453362, PMID:26931382, PMID:27172925, PMID:27325525, PMID:28492532, PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:28492532 NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 7:129,798,663...129,812,677
Ensembl chr 7:129,798,663...129,812,388
JBrowse link
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:28492532 NCBI chr11:83,985,484...83,991,706
Ensembl chr11:83,986,230...83,991,706
JBrowse link
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:118,415,680...118,470,634
Ensembl chr 5:118,418,799...118,469,376
JBrowse link
G Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:25741868 NCBI chr 1:162,342,061...162,362,139
Ensembl chr 1:162,342,051...162,362,141
JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:28492532 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
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 5:57,121,768...57,168,610
Ensembl chr 5:57,121,769...57,168,610
JBrowse link
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr10:102,167,594...102,180,569
Ensembl chr10:102,167,771...102,180,569
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701
JBrowse link
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:24033266, PMID:28492532 NCBI chr 2:142,197,566...142,235,054
Ensembl chr 2:142,196,754...142,235,066
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 1:191,889,332...191,948,977
Ensembl chr 1:191,857,556...191,948,977
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 chr19:39,246,656...39,257,406
Ensembl chr19:39,246,625...39,257,451
JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
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 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 3:8,850,154...8,852,192
Ensembl chr 3:8,850,154...8,852,192
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:18414213, PMID:25741868 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
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 3:164,966,637...164,986,180
Ensembl chr 3:164,966,637...164,986,180
JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 6:50,925,987...50,943,546
Ensembl chr 6:50,928,397...50,943,488
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:26931382 NCBI chr10:10,530,302...10,540,428
Ensembl chr10:10,530,365...10,540,428
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 6:51,231,479...51,257,699
Ensembl chr 6:51,231,480...51,257,625
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:18414213, PMID:25741868 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
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:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667
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 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr10:56,261,636...56,267,213
Ensembl chr10:56,261,637...56,267,213
JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 8:62,324,176...62,332,080
Ensembl chr 8:62,324,092...62,332,115
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 3:8,852,271...8,908,608
Ensembl chr 3:8,873,933...8,908,438
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 chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr19:39,244,242...39,246,636
Ensembl chr19:39,245,212...39,246,545
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
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 PMID:9140401, PMID:9497260, PMID:9781039, PMID:10386614, PMID:10527672, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11343337, PMID:11517108, PMID:11916319, PMID:15844218, PMID:17166182, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30740725, PMID:31474318, PMID:32581362, PMID:32860008, PMID:10066032, PMID:11058896 RGD:1599134, RGD:1599132 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:24033266 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr16:6,712,387...6,746,711
Ensembl chr16:6,712,389...6,746,696
JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:28492532 NCBI chr 3:153,398,373...153,445,633
Ensembl chr 3:153,398,130...153,445,632
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:24033266 NCBI chr 5:50,119,880...50,142,689
Ensembl chr 5:50,119,881...50,142,724
JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 3:81,361,080...81,369,010
Ensembl chr 3:81,361,056...81,368,442
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:20637498, PMID:20700148, PMID:20852264, PMID:22304929, PMID:24433453, PMID:25326635, PMID:25741868, PMID:26219881, PMID:27480077, PMID:28253385, PMID:28940310, PMID:32581362 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
JBrowse link
G Ssr3 signal sequence receptor subunit 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:30945312 NCBI chr 2:156,010,997...156,023,853
Ensembl chr 2:156,011,002...156,014,527
JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr14:34,503,037...34,528,262
Ensembl chr14:34,503,038...34,528,262
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:23806237, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
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 chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf2 insulin-like growth factor 2 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:19207313 RGD:12910858 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19207313 RGD:12910858 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia
ClinVar Annotator: match by term: Phosphomannomutase 2 deficiency
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:9710598, PMID:9781039, PMID:10066032, PMID:10386614, PMID:10527672, PMID:10571009, PMID:10571956, PMID:10602363, PMID:10801058, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11058896, PMID:11134235, PMID:11148191, PMID:11156536, PMID:11343337, PMID:11409861, PMID:11517108, PMID:11589167, PMID:11715002, PMID:11875054, PMID:11891694, PMID:11916319, PMID:12297897, PMID:12357336, PMID:12529711, PMID:12607543, PMID:12626389, PMID:12705494, PMID:12905014, PMID:13129599, PMID:15272470, PMID:15277997, PMID:15520415, PMID:15645285, PMID:15714316, PMID:15844218, PMID:16085795, PMID:16376131, PMID:16435227, PMID:16540464, PMID:16825284, PMID:16941129, PMID:17158594, PMID:17166182, PMID:17186415, PMID:17307006, PMID:17308246, PMID:17920054, PMID:18093857, PMID:18203160, PMID:18485644, PMID:18571450, PMID:18629883, PMID:18948042, PMID:19101518, PMID:19165618, PMID:19168813, PMID:19235233, PMID:19357119, PMID:19396570, PMID:19862844, PMID:20301289, PMID:20638314, PMID:21228398, PMID:21539312, PMID:21541725, PMID:21937992, PMID:21949237, PMID:22012410, PMID:22223895, PMID:22649348, PMID:22801829, PMID:22814378, PMID:23045520, PMID:23430838, PMID:23430905, PMID:23430927, PMID:23806237, PMID:23988505, PMID:24033266, PMID:24037084, PMID:24139637, PMID:24498599, PMID:24739649, PMID:25326635, PMID:25355454, PMID:25497157, PMID:25525159, PMID:25681648, PMID:25741868, PMID:26014514, PMID:26206375, PMID:26488408, PMID:26502900, PMID:26629787, PMID:26805780, PMID:26887550, PMID:27053713, PMID:27415628, PMID:28122681, PMID:28139241, PMID:28373276, PMID:28425223, PMID:28454995, PMID:28492532, PMID:28807751, PMID:28820871, PMID:28915903, PMID:28940310, PMID:29361989, PMID:29470411, PMID:30061496, PMID:30311386, PMID:30687093, PMID:30740725, PMID:31474318, PMID:32581362, PMID:32860008 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A ClinVar PMID:28492532 NCBI chr10:7,077,488...7,080,806
Ensembl chr10:7,077,488...7,080,798
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 1aa
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iaa
ClinVar
OMIM
PMID:25066056, PMID:25741868, PMID:28492532 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
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: 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, PMID:11350186, PMID:12414827, PMID:18928705, PMID:19862844, PMID:24033266, PMID:24421398, PMID:24508628, PMID:25741868, PMID:26206375, PMID:28492532, PMID:28928705, PMID:30545931 NCBI chr 8:62,324,176...62,332,080
Ensembl chr 8:62,324,092...62,332,115
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:10359825, PMID:10852543, PMID:10914684, PMID:10924277, PMID:11106564, PMID:11558905, PMID:12855228, PMID:14517965, PMID:15771971, PMID:16007612, PMID:16321363, PMID:18414213, PMID:19862844, PMID:20398363, PMID:20447155, PMID:21334936, PMID:21899441, PMID:23044053, PMID:23430515, PMID:25525159, PMID:25741868, PMID:26117549, PMID:26453362, PMID:27287710, PMID:27959697, PMID:28492532 NCBI chr 5:118,415,680...118,470,634
Ensembl chr 5:118,418,799...118,469,376
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 OMIM
ClinVar
PMID:25135935, PMID:25741868, PMID:31036665 NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667
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, PMID:17551933, PMID:23806237, PMID:25741868, PMID:28492532 NCBI chr11:83,985,484...83,991,706
Ensembl chr11:83,986,230...83,991,706
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:10642597, PMID:10642602, PMID:15669674, PMID:16641202, PMID:23856421, PMID:25741868, PMID:26729507, PMID:27481510, PMID:28492532 NCBI chr 3:164,966,637...164,986,180
Ensembl chr 3:164,966,637...164,986,180
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 chr10:56,261,636...56,267,213
Ensembl chr10:56,261,637...56,267,213
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F ClinVar NCBI chr10:56,260,514...56,263,503
Ensembl chr10:56,260,514...56,263,503
JBrowse link
congenital disorder of glycosylation Ig term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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, PMID:17506107, PMID:19862844, PMID:25019053, PMID:25326635, PMID:25741868, PMID:28492532, PMID:31481313 NCBI chr 7:129,798,663...129,812,677
Ensembl chr 7:129,798,663...129,812,388
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:19862844, PMID:25428507, PMID:25741868, PMID:26066342, PMID:26653770, PMID:28492532, PMID:28940310 NCBI chr 1:162,342,061...162,362,139
Ensembl chr 1:162,342,051...162,362,141
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 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025
JBrowse link
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:26833332 NCBI chr 9:37,774,876...37,778,839
Ensembl chr 9:37,775,311...37,779,967
JBrowse link
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:26833330 NCBI chr10:65,775,721...65,780,293
Ensembl chr10:65,775,715...65,780,349
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:28492532 NCBI chr 8:48,604,915...48,626,219
Ensembl chr 8:48,606,403...48,619,592
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,641,792...48,652,119
Ensembl chr 8:48,641,801...48,652,071
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,570,718...48,577,856
Ensembl chr 8:48,569,328...48,577,855
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:12872255, PMID:15771971, PMID:18414213, PMID:22304930, PMID:22492991, PMID:22742743, PMID:22786653, PMID:23249953, PMID:23430862, PMID:23591138, PMID:24759841, PMID:25326635, PMID:25500013, PMID:25741868, PMID:26033833, PMID:26467025, PMID:28492532, PMID:28662078 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,626,398...48,638,012
Ensembl chr 8:48,628,340...48,634,797
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 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867
JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,577,905...48,582,353
Ensembl chr 8:48,577,952...48,582,353
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: Congenital disorder of glycosylation type 1K
ClinVar Annotator: match by OMIM:608540
OMIM
ClinVar
PMID:14709599, PMID:14973778, PMID:14973782, PMID:20679665, PMID:22966035, PMID:23757202, PMID:24033266, PMID:25741868, PMID:25956699, PMID:26453362, PMID:26931382, PMID:27172925, PMID:27325525, PMID:28492532, PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
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:26931382, PMID:28492532 NCBI chr10:10,530,302...10,540,428
Ensembl chr10:10,530,365...10,540,428
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:15148656, PMID:15945070, PMID:25741868, PMID:26453364, PMID:26467025, PMID:28492532, PMID:31395617 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
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:18157129, PMID:19321599, PMID:23963297, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
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, PMID:25741868, PMID:25819062, PMID:27212206, PMID:28074886, PMID:28492532, PMID:28816422 NCBI chr 3:8,850,154...8,852,192
Ensembl chr 3:8,850,154...8,852,192
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M ClinVar NCBI chr 3:8,852,271...8,908,608
Ensembl chr 3:8,873,933...8,908,438
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:18313027, PMID:19701946, PMID:19856127, PMID:23111317, PMID:25741868, PMID:28492532, PMID:28940310 NCBI chr16:6,712,387...6,746,711
Ensembl chr16:6,712,389...6,746,696
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 chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P ClinVar PMID:28492532 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
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:20700148, PMID:20852264, PMID:22304929, PMID:24433453, PMID:25326635, PMID:25741868, PMID:26219881, PMID:27480077, PMID:28253385, PMID:28492532, PMID:28940310, PMID:31319225, PMID:32581362 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
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:22305527, PMID:25741868, PMID:28492532 NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
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: GSD XIV
ClinVar Annotator: match by term: CDG It
ClinVar Annotator: match by term: Glycogen storage disease XIV
ClinVar
OMIM
PMID:19625727, PMID:22492991, PMID:24499211, PMID:25288802, PMID:25741868, PMID:26768186, PMID:27206562, PMID:28492532 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
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 3:11,652,143...11,659,135 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 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
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 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
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 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
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:18414213, PMID:19901254, PMID:23109149, PMID:25741868, PMID:28492532 NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
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 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
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 3:11,921,715...11,971,327
Ensembl chr 3:11,921,715...11,971,327
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 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
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 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
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 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
JBrowse link
G RGD1561113 similar to Hypothetical UPF0184 protein C9orf16 homolog ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
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 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
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 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
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 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
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 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
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 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
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 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
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:28424003 NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882
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 8:123,303,910...123,370,729
Ensembl chr 8:123,293,057...123,371,257
JBrowse link
congenital disorder of glycosylation Iy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
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, PMID:31469168 NCBI chr 2:188,583,664...188,584,179
Ensembl chr 2:188,583,664...188,584,179
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 chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
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 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025
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 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
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, PMID:25558065, PMID:25741868, PMID:28492532 NCBI chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
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, PMID:29235540, PMID:32860008 NCBI chr 4:113,948,328...113,951,731
Ensembl chr 4:113,948,514...113,951,847
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 Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,314,151...81,344,143
Ensembl chr 3:81,314,149...81,344,110
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 3:81,295,023...81,304,181
Ensembl chr 3:81,295,024...81,304,181
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G RGD1563263 similar to RIKEN cDNA 1700029I15 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,294,275...81,295,027
Ensembl chr 3:81,294,275...81,295,027
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
PMID:1279426, PMID:11213799, PMID:11326279, PMID:11326280, PMID:12116250, PMID:23806237, PMID:24033266, PMID:24403049, PMID:25326637, PMID:25741868, PMID:28492532, PMID:11326280 RGD:1599002 NCBI chr 3:81,361,080...81,369,010
Ensembl chr 3:81,361,056...81,368,442
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 NCBI chr 5:57,121,768...57,168,610
Ensembl chr 5:57,121,769...57,168,610
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, PMID:25741868, PMID:25741869, PMID:28492532 NCBI chr 1:191,889,332...191,948,977
Ensembl chr 1:191,857,556...191,948,977
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 Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F OMIM
ClinVar
PMID:23873973, PMID:25552652, PMID:25741868, PMID:28492532, PMID:28856833 NCBI chr 5:50,119,880...50,142,689
Ensembl chr 5:50,119,881...50,142,724
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:16537452, PMID:19008299, PMID:23757202, PMID:23806237, PMID:25741868, PMID:27112773, PMID:28492532 NCBI chr10:102,167,594...102,180,569
Ensembl chr10:102,167,771...102,180,569
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 chr10:102,179,478...102,200,488
Ensembl chr10:102,179,478...102,200,596
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, PMID:30690882 NCBI chr19:39,246,656...39,257,406
Ensembl chr19:39,246,625...39,257,451
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H ClinVar NCBI chr19:39,244,242...39,246,636
Ensembl chr19:39,245,212...39,246,545
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:19690088, PMID:23228021, PMID:23430875, PMID:24033266, PMID:25331899, PMID:25741868, PMID:28492532, PMID:28708303, PMID:31572517, PMID:32174980 NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701
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 6:50,925,987...50,943,546
Ensembl chr 6:50,928,397...50,943,488
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i ClinVar NCBI chr 6:51,231,479...51,257,699
Ensembl chr 6:51,231,480...51,257,625
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:19494034, PMID:19651599, PMID:21185756, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30290151, PMID:31949312, PMID:32078278 NCBI chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828
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:22683087, PMID:28492532 NCBI chr14:34,503,037...34,528,262
Ensembl chr14:34,503,038...34,528,262
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, PMID:24667119, PMID:25558065, PMID:25741868, PMID:26260076, PMID:26937396, PMID:28492532 NCBI chr 2:142,197,566...142,235,054
Ensembl chr 2:142,196,754...142,235,066
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 Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
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:15,318,215...15,322,601
Ensembl chr  X:15,419,028...15,423,414
Ensembl chr  X:15,419,028...15,423,414
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:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
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:15,225,645...15,240,458
Ensembl chr  X:15,225,645...15,240,329
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:15,523,929...15,553,702
Ensembl chr  X:15,523,929...15,553,720
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:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
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:15,506,724...15,520,712
Ensembl chr  X:15,506,724...15,520,712
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:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
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:15,324,263...15,327,705 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:15,462,621...15,467,890
Ensembl chr  X:15,462,016...15,467,875
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:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
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:15,618,324...15,620,992
Ensembl chr  X:15,618,991...15,620,841
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:25741868, PMID:26350515, PMID:26467025, PMID:28492532, PMID:28771251, PMID:29907092, PMID:30817854 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G Suv39h1 suppressor of variegation 3-9 homolog 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:146,532,002...146,533,538 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:15,574,579...15,587,826
Ensembl chr  X:15,575,934...15,587,419
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:15,441,369...15,448,452
Ensembl chr  X:15,441,651...15,448,403
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:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
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:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
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:25741868, PMID:26637978, PMID:26637979, PMID:32313153 NCBI chr 2:241,028,851...241,092,584
Ensembl chr 2:241,029,693...241,092,582
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
OMIM
PMID:26833332 NCBI chr 9:37,774,876...37,778,839
Ensembl chr 9:37,775,311...37,779,967
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
OMIM
PMID:19067230, PMID:26833330 NCBI chr10:65,775,721...65,780,293
Ensembl chr10:65,775,715...65,780,349
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:28492532 NCBI chr19:57,286,955...57,322,853
Ensembl chr19:57,286,985...57,319,329
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 OMIM
ClinVar
PMID:29127204 NCBI chr  X:11,137,889...11,164,854
Ensembl chr  X:11,136,939...11,164,915
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
OMIM
PMID:27508872, PMID:32293671 NCBI chr19:57,043,858...57,115,123
Ensembl chr19:57,047,830...57,115,132
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:29304374 NCBI chr 6:100,305,957...100,537,208
Ensembl chr 6:100,337,226...100,537,224
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 chr19:43,338,146...43,357,826
Ensembl chr19:43,338,166...43,357,822
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:28492532 NCBI chr13:44,998,414...45,040,593
Ensembl chr13:44,998,414...45,040,593
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, PMID:19121318, PMID:19680155, PMID:23103650, PMID:24033266, PMID:25741868, PMID:26812950, PMID:27579322, PMID:27749612, PMID:27872184, PMID:28492532 NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
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 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
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:123,773,430...123,788,898
Ensembl chr  X:123,773,430...123,788,898
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:124,631,544...124,652,520
Ensembl chr  X:124,631,881...124,652,975
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
PMID:3087571, PMID:6408499, PMID:6450334, PMID:7919972, PMID:8504498, PMID:10972294, PMID:12112061, PMID:14598234, PMID:15253947, PMID:15673802, PMID:15792868, PMID:15889279, PMID:15907287, PMID:16190986, PMID:16217705, PMID:16565504, PMID:17899313, PMID:18061453, PMID:18282207, PMID:18312451, PMID:18555174, PMID:18990578, PMID:19318653, PMID:19373884, PMID:19533775, PMID:20173215, PMID:20445193, PMID:20960602, PMID:21070164, PMID:21415759, PMID:21520333, PMID:21896538, PMID:22074992, PMID:22695892, PMID:23168931, PMID:23785128, PMID:24033266, PMID:24503780, PMID:25091525, PMID:25326635, PMID:25458169, PMID:25741868, PMID:25826782, PMID:26748608, PMID:27066507, PMID:27179547, PMID:27532257, PMID:27600940, PMID:27678261, PMID:28492532, PMID:28771489, PMID:29753918, PMID:29915097, PMID:29720683 RGD:13703117 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
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:123,999,683...124,002,081
Ensembl chr  X:123,999,683...124,002,073
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,803,109...123,806,760
Ensembl chr  X:124,513,269...124,516,705
Ensembl chr  X:124,513,269...124,516,705
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,751,196...123,770,595
Ensembl chr  X:123,751,089...123,770,595
JBrowse link
G Rhox10 reproductive homeobox 10 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,207,017...124,211,455
Ensembl chr  X:124,207,017...124,211,455
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,806,922...123,808,049
Ensembl chr  X:124,516,949...124,518,077
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,400,686...124,465,156
Ensembl chr  X:124,328,735...124,465,110
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:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385
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:124,319,299...124,326,506
Ensembl chr  X:124,321,551...124,323,960
JBrowse link
early infantile 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:28007989, PMID:28492532 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
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 6:26,797,126...26,809,132
Ensembl chr 6:26,797,126...26,809,129
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
PMID:7833921, PMID:9799106, PMID:18035330, PMID:19237742, PMID:28492532, PMID:29870677 RGD:13782360 NCBI chr 6:26,810,577...26,821,013
Ensembl chr 6:26,810,579...26,820,959
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, PMID:11949934, PMID:15019703, PMID:15452297, PMID:17662246, PMID:20655781, PMID:22106711, PMID:23034915, PMID:23607684, PMID:24082139, PMID:24248152, PMID:25133958, PMID:25665141, PMID:25741868, PMID:26199317, PMID:26385640, PMID:26886200, PMID:28492532, PMID:30311386 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
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, PMID:9041101, PMID:9075812, PMID:9382893, PMID:9519757, PMID:9568693, PMID:9618169, PMID:9642650, PMID:9648840, PMID:9769320, PMID:10202168, PMID:10204114, PMID:10334322, PMID:10338089, PMID:10400694, PMID:10426386, PMID:10447255, PMID:10487673, PMID:10615958, PMID:10685980, PMID:10720932, PMID:10923633, PMID:10993895, PMID:11018078, PMID:11226335, PMID:11272143, PMID:11395395, PMID:11457841, PMID:11697420, PMID:11867634, PMID:11999683, PMID:12169627, PMID:12199344, PMID:12364426, PMID:12559865, PMID:12627323, PMID:12784138, PMID:12941782, PMID:14593442, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15111507, PMID:15356046, PMID:15561897, PMID:15562009, PMID:15579781, PMID:15807877, PMID:15842514, PMID:16186397, PMID:16357843, PMID:16380471, PMID:16416420, PMID:16429405, PMID:16442101, PMID:16860127, PMID:16969006, PMID:17236890, PMID:17378627, PMID:17384337, PMID:17466004, PMID:17539904, PMID:17575084, PMID:17668386, PMID:17919176, PMID:17990484, PMID:18025408, PMID:18073294, PMID:18339976, PMID:18346985, PMID:18390792, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18596924, PMID:18599530, PMID:18758683, PMID:18767144, PMID:18988933, PMID:19151370, PMID:19475716, PMID:20042013, PMID:20427569, PMID:20432820, PMID:20573158, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20849526, PMID:20922570, PMID:20943779, PMID:20943781, PMID:21109997, PMID:21214702, PMID:21321069, PMID:21378087, PMID:21411514, PMID:21422196, PMID:21544516, PMID:21617188, PMID:21674179, PMID:21716120, PMID:21851374, PMID:21968111, PMID:21978130, PMID:21992908, PMID:22210575, PMID:22308858, PMID:22562119, PMID:22662265, PMID:22704848, PMID:22796691, PMID:22802590, PMID:22855730, PMID:22876564, PMID:22902787, PMID:23067144, PMID:23226049, PMID:23261959, PMID:23266803, PMID:23273570, PMID:23275527, PMID:23301914, PMID:23345197, PMID:23506826, PMID:23652837, PMID:23744072, PMID:23771172, PMID:23771920, PMID:23798684, PMID:23903354, PMID:24033266, PMID:24044690, PMID:24072082, PMID:24080777, PMID:24145932, PMID:24332968, PMID:24401662, PMID:24411943, PMID:24434300, PMID:24616771, PMID:24645945, PMID:24686051, PMID:24750227, PMID:24768178, PMID:24814349, PMID:24937539, PMID:24959012, PMID:25008049, PMID:25117148, PMID:25201519, PMID:25306193, PMID:25323548, PMID:25518065, PMID:25525159, PMID:25555642, PMID:25584046, PMID:25639667, PMID:25720052, PMID:25741868, PMID:25765446, PMID:25781672, PMID:25931474, PMID:25955821, PMID:25972930, PMID:26180531, PMID:26208381, PMID:26246406, PMID:26268944, PMID:26316440, PMID:26379717, PMID:26431509, PMID:26467025, PMID:26545876, PMID:26594346, PMID:26740944, PMID:26758964, PMID:26839896, PMID:27175728, PMID:27188453, PMID:27313609, PMID:27573238, PMID:27682711, PMID:27691052, PMID:27754802, PMID:27810688, PMID:27889714, PMID:27908292, PMID:28018462, PMID:28095440, PMID:28270372, PMID:28346775, PMID:28442472, PMID:28492532, PMID:28529015, PMID:28701683, PMID:29207974, PMID:29216354, PMID:29644095, PMID:30186238, PMID:30297969, PMID:30352420, PMID:30386300, PMID:30447144, PMID:30462810, PMID:31604004 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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:28492532 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 OMIM
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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, PMID:9435328, PMID:9469993, PMID:10447526, PMID:11315850, PMID:11315851, PMID:11916951, PMID:11942313, PMID:12442280, PMID:12627330, PMID:14517946, PMID:14517956, PMID:15277402, PMID:15305805, PMID:15841481, PMID:15918042, PMID:15928245, PMID:16963153, PMID:16965331, PMID:17573900, PMID:18271687, PMID:19790256, PMID:20132997, PMID:21604084, PMID:22493702, PMID:22611063, PMID:24097065, PMID:24518839, PMID:24728127, PMID:25015100, PMID:25741868, PMID:25850297, PMID:26467025, PMID:28492532 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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, PMID:22662265, PMID:23273570, PMID:25741868, PMID:27104957, PMID:28492532 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
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 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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 OMIM:609968 OMIM
ClinVar
PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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, PMID:11214910, PMID:18414213, PMID:18928469, PMID:19046187, PMID:23869231, PMID:25008049, PMID:25741868, PMID:26467025, PMID:26759084, PMID:27188453, PMID:28165182, PMID:28492532, PMID:30306091, PMID:30352420, PMID:30425915 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
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, PMID:25741868, PMID:25741869, PMID:26595136, PMID:28492532 NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
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:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar Annotator: match by term: G6PD MINNESOTA
ClinVar Annotator: match by term: G6PD A-
ClinVar Annotator: match by term: G6pd a-
ClinVar Annotator: match by term: G6PD MALAGA
ClinVar Annotator: match by term: G6PD AURES
CTD
ClinVar
OMIM
PMID:5448, PMID:16832, PMID:848857, PMID:1303173, PMID:1303182, PMID:1536798, PMID:1551674, PMID:1562739, PMID:1631957, PMID:1805484, PMID:1924316, PMID:1972698, PMID:1978554, PMID:1978555, PMID:1999409, PMID:2255919, PMID:2263506, PMID:2321910, PMID:2503817, PMID:2572288, PMID:2633878, PMID:2836867, PMID:2849540, PMID:2912069, PMID:3338798, PMID:3393536, PMID:3446582, PMID:4154774, PMID:4283789, PMID:4359638, PMID:4388132, PMID:4435794, PMID:4837298, PMID:4974311, PMID:5305539, PMID:5369703, PMID:5485383, PMID:5673160, PMID:5770172, PMID:6015571, PMID:6344088, PMID:6698555, PMID:6714978, PMID:6714986, PMID:7129446, PMID:7160841, PMID:7203486, PMID:7283560, PMID:7327562, PMID:7390473, PMID:7789945, PMID:7806085, PMID:7825590, PMID:7947239, PMID:7947250, PMID:7949118, PMID:7959686, PMID:8118045, PMID:8241497, PMID:8447319, PMID:8471773, PMID:8490627, PMID:8533762, PMID:8537082, PMID:8611726, PMID:8807321, PMID:8807322, PMID:8860013, PMID:8956035, PMID:9299858, PMID:9342374, PMID:9427729, PMID:9589612, PMID:9674740, PMID:9858856, PMID:10221015, PMID:10502785, PMID:10643148, PMID:10666231, PMID:10734064, PMID:10782016, PMID:11024211, PMID:11112389, PMID:11243133, PMID:11400791, PMID:11445808, PMID:11499668, PMID:11601226, PMID:11793482, PMID:11852882, PMID:12028056, PMID:12130518, PMID:12215013, PMID:12367584, PMID:12497642, PMID:12737938, PMID:12768444, PMID:14278484, PMID:14505231, PMID:15183620, PMID:15223006, PMID:15315792, PMID:15349799, PMID:15502081, PMID:15735168, PMID:15906717, PMID:16088936, PMID:16119988, PMID:16136268, PMID:16143877, PMID:16155737, PMID:16329560, PMID:16356170, PMID:16528451, PMID:16607506, PMID:16777444, PMID:16927025, PMID:17587269, PMID:17726510, PMID:17959407, PMID:18043863, PMID:18046504, PMID:18177777, PMID:18270558, PMID:18329300, PMID:19112496, PMID:19422023, PMID:19589177, PMID:19594365, PMID:19632868, PMID:19690618, PMID:20007901, PMID:20203002, PMID:20236109, PMID:20582980, PMID:20602793, PMID:20621077, PMID:21153663, PMID:21302115, PMID:21446359, PMID:21479984, PMID:21677401, PMID:21874587, PMID:21931771, PMID:21989994, PMID:22018328, PMID:22165289, PMID:22171972, PMID:22237549, PMID:22293322, PMID:22906047, PMID:22906837, PMID:22963789, PMID:22963798, PMID:22992668, PMID:23006493, PMID:23144702, PMID:23365477, PMID:23479361, PMID:23926329, PMID:23965028, PMID:24033266, PMID:24101478, PMID:24460025, PMID:24505519, PMID:24586352, PMID:25141282, PMID:25201310, PMID:25326637, PMID:25440321, PMID:25541721, PMID:25548459, PMID:25741868, PMID:25775246, PMID:26060661, PMID:26226515, PMID:26633385, PMID:26823837, PMID:26829728, PMID:27040960, PMID:27053284, PMID:27213370, PMID:27287612, PMID:27519946, PMID:27535533, PMID:27880809, PMID:28195434, PMID:28492532, PMID:29072585, PMID:29339739, PMID:30045279, PMID:30097005, PMID:30311386, PMID:30315739, PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar PMID:8471773, PMID:10502785, PMID:11601226, PMID:16329560, PMID:28492532, PMID:29339739, PMID:30315739 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type
ClinVar Annotator: match by term: Leigh syndrome, French Canadian type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:220111
OMIM
ClinVar
CTD
PMID:12529507, PMID:15139850, PMID:17050673, PMID:18414213, PMID:20200222, PMID:21266382, PMID:21437181, PMID:22494076, PMID:24033266, PMID:25741868, PMID:26510951, PMID:26741492, PMID:27408822, PMID:27574110, PMID:28492532, PMID:29152527, PMID:30311386 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
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:1856829, PMID:1967768, PMID:2203259, PMID:2336380, PMID:2349937, PMID:2623136, PMID:3383242, PMID:6348085, PMID:7717389, PMID:8071980, PMID:8096362, PMID:8299883, PMID:8299892, PMID:8438046, PMID:8535439, PMID:8541450, PMID:9610797, PMID:10024431, PMID:10229688, PMID:10352930, PMID:10625657, PMID:10970798, PMID:11757579, PMID:12205126, PMID:12417303, PMID:12464284, PMID:15532022, PMID:15733923, PMID:15880727, PMID:16406649, PMID:16630753, PMID:18541450, PMID:19768653, PMID:20033295, PMID:20848650, PMID:20882353, PMID:21228398, PMID:22494545, PMID:22995991, PMID:23114028, PMID:23430936, PMID:24033266, PMID:25525159, PMID:25595217, PMID:25741868, PMID:26633542, PMID:26677512, PMID:26937407, PMID:27797444, PMID:28492532, PMID:30311386, PMID:31591370, PMID:32860008 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
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, PMID:23663589, PMID:23670307, PMID:24033266, PMID:25741868, PMID:25891276, PMID:28492532 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
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
PMID:7763253, PMID:9382095, PMID:11286391, PMID:12126934, PMID:20096900, PMID:23881342, PMID:25326637, PMID:25601412, PMID:25741868, PMID:27101822, PMID:28420223, PMID:28492532, PMID:28776561, PMID:29016355, PMID:29774539, PMID:29774540, PMID:29774541, PMID:29774542, PMID:29774543, PMID:29774544, PMID:29774545, PMID:7763253 RGD:1601165 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
fucosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Fucosidosis ClinVar PMID:25741868 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO DNA:nonsense mutation:cds: (human)
ClinVar Annotator: match by term: Fucosidosis
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:230000
ClinVar
OMIM
PMID:1214294, PMID:1281988, PMID:2012122, PMID:2642067, PMID:2803224, PMID:7815431, PMID:8097260, PMID:8401503, PMID:8504303, PMID:8739734, PMID:9039984, PMID:9762612, PMID:10094192, PMID:17427030, PMID:23210910, PMID:24033266, PMID:25741868, PMID:26515723, PMID:28492532, PMID:2642067 RGD:1598969 NCBI chr 5:154,269,296...154,286,545
Ensembl chr 5:154,269,118...154,286,544
JBrowse link
galactokinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar
OMIM
PMID:7670469, PMID:10521295, PMID:10570908, PMID:10790206, PMID:11139256, PMID:11231902, PMID:11978883, PMID:11978884, PMID:12647253, PMID:12694189, PMID:12942049, PMID:15024738, PMID:15322984, PMID:15590630, PMID:17517531, PMID:19309526, PMID:20405025, PMID:21264483, PMID:21290184, PMID:22632133, PMID:25741868, PMID:28173647, PMID:28418495, PMID:28429145, PMID:28468868, PMID:28492532, PMID:28672748 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar PMID:25741868, PMID:28492532 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
galactose epimerase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar
OMIM
PMID:6408303, PMID:7305435, PMID:9326324, PMID:9538513, PMID:9973283, PMID:10086948, PMID:11117433, PMID:11279193, PMID:15639193, PMID:16301867, PMID:16302980, PMID:16385452, PMID:18188677, PMID:19250319, PMID:23644136, PMID:23732289, PMID:24033266, PMID:24578239, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
galactosemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B IEP protein:increased expression:endothelial cell, lens RGD PMID:16936110 RGD:1599728 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Cryaa crystallin, alpha A IEP mRNA:decreased expression:lens RGD PMID:1707863 RGD:1600994 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP Protein:increased expression:lens epithelium RGD PMID:16936110 RGD:1599728 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Gale UDP-galactose-4-epimerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Galk1 galactokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670469 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by OMIM:230400
ClinVar Annotator: match by term: Galactosemia, classic
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
ClinVar
CTD
PMID:1301925, PMID:1373122, PMID:1427861, PMID:1610789, PMID:1766867, PMID:1897530, PMID:2011574, PMID:2233247, PMID:4759900, PMID:7550229, PMID:7573066, PMID:7623454, PMID:7671959, PMID:7887416, PMID:7887417, PMID:8040766, PMID:8051928, PMID:8198125, PMID:8406510, PMID:8499924, PMID:8522334, PMID:8551426, PMID:8598637, PMID:8692963, PMID:8741038, PMID:8869397, PMID:8892021, PMID:8943248, PMID:8956044, PMID:9012409, PMID:9202622, PMID:9222760, PMID:9323558, PMID:9396569, PMID:9450900, PMID:9635294, PMID:9686364, PMID:9766850, PMID:9772178, PMID:10037750, PMID:10070616, PMID:10220154, PMID:10384398, PMID:10399107, PMID:10408771, PMID:10424825, PMID:10439960, PMID:10535394, PMID:10573007, PMID:10649501, PMID:10811638, PMID:10884393, PMID:10952646, PMID:10960497, PMID:11152465, PMID:11216901, PMID:11261429, PMID:11286503, PMID:11286505, PMID:11397328, PMID:11479743, PMID:11511927, PMID:11596650, PMID:11678552, PMID:11754113, PMID:11919338, PMID:12208137, PMID:12350230, PMID:12491926, PMID:12552079, PMID:12595586, PMID:12872845, PMID:14518827, PMID:14728988, PMID:15172000, PMID:15633893, PMID:15749517, PMID:15775761, PMID:15841485, PMID:16167124, PMID:16540753, PMID:16765930, PMID:16838075, PMID:17041746, PMID:17079880, PMID:17143577, PMID:17486650, PMID:17876724, PMID:17884932, PMID:18207281, PMID:18210213, PMID:18813948, PMID:18956253, PMID:19181333, PMID:19224951, PMID:19375122, PMID:19418241, PMID:19581158, PMID:19904210, PMID:20008339, PMID:20100763, PMID:20213376, PMID:20301691, PMID:20348403, PMID:20351709, PMID:20547145, PMID:20663501, PMID:21188552, PMID:21228398, PMID:21501963, PMID:21779791, PMID:22461411, PMID:22693313, PMID:22729817, PMID:22743281, PMID:22773758, PMID:22870861, PMID:22944367, PMID:22963887, PMID:23022339, PMID:23319291, PMID:23418865, PMID:23430559, PMID:23583749, PMID:23690308, PMID:23749220, PMID:23924834, PMID:24033266, PMID:24045215, PMID:24718839, PMID:24973740, PMID:25052314, PMID:25087612, PMID:25124065, PMID:25268296, PMID:25473725, PMID:25525159, PMID:25592817, PMID:25614870, PMID:25741868, PMID:25814382, PMID:26565537, PMID:27005423, PMID:27176039, PMID:27308838, PMID:27363831, PMID:27415407, PMID:27603904, PMID:27629047, PMID:27878435, PMID:28065439, PMID:28173647, PMID:28492532, PMID:28644047, PMID:28649529, PMID:29252199, PMID:29261178, PMID:29653003, PMID:30231941, PMID:30311386, PMID:30718057, PMID:30808388, PMID:31042289 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Galactosemia, classic ClinVar PMID:17079880 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
JBrowse link
Galactosemia IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: GALACTOSEMIA IV OMIM
ClinVar
PMID:30451973 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
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
OMIM
PMID:25741868, PMID:25966638 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
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:9815014, PMID:12139397, PMID:19167319, PMID:20486940, PMID:22314875, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr14:82,910,448...82,975,303
Ensembl chr14:82,909,981...82,975,263
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, PMID:1303182, PMID:1536798, PMID:1551674, PMID:1562739, PMID:1631957, PMID:1805484, PMID:1924316, PMID:1972698, PMID:1978554, PMID:1978555, PMID:1999339, PMID:2253938, PMID:2255919, PMID:2263506, PMID:2321910, PMID:2503817, PMID:2572288, PMID:2602358, PMID:2633878, PMID:2836867, PMID:2849540, PMID:2895981, PMID:2912069, PMID:3338798, PMID:3393536, PMID:3446582, PMID:4125296, PMID:4154774, PMID:4283789, PMID:4359638, PMID:4388132, PMID:4435794, PMID:4728291, PMID:4837298, PMID:4974311, PMID:5305539, PMID:5369703, PMID:5485383, PMID:5673160, PMID:5770172, PMID:6015571, PMID:6344088, PMID:6698555, PMID:6714978, PMID:6714986, PMID:7129446, PMID:7160841, PMID:7203486, PMID:7283560, PMID:7327562, PMID:7390473, PMID:7789945, PMID:7806085, PMID:7825590, PMID:7947239, PMID:7947250, PMID:7949118, PMID:7959686, PMID:8118045, PMID:8447319, PMID:8471773, PMID:8533762, PMID:8537082, PMID:8611726, PMID:8807321, PMID:8807322, PMID:8860013, PMID:8956035, PMID:9299858, PMID:9342374, PMID:9410474, PMID:9427729, PMID:9589612, PMID:9858856, PMID:10221015, PMID:10502785, PMID:10643148, PMID:10666231, PMID:10734064, PMID:11024211, PMID:11112389, PMID:11243133, PMID:11400791, PMID:11445808, PMID:11499668, PMID:11601226, PMID:11793482, PMID:11852882, PMID:12028056, PMID:12215013, PMID:12367584, PMID:12497642, PMID:12737938, PMID:12768444, PMID:14278484, PMID:14505231, PMID:15183620, PMID:15223006, PMID:15315792, PMID:15349799, PMID:15502081, PMID:15735168, PMID:15906717, PMID:15914531, PMID:16088936, PMID:16119988, PMID:16136268, PMID:16143877, PMID:16155737, PMID:16329560, PMID:16356170, PMID:16528451, PMID:16607506, PMID:16777444, PMID:16927025, PMID:17587269, PMID:17726510, PMID:17959407, PMID:18043863, PMID:18046504, PMID:18177777, PMID:18270558, PMID:18329300, PMID:19112496, PMID:19589177, PMID:19594365, PMID:19690618, PMID:20007901, PMID:20203002, PMID:20236109, PMID:20582980, PMID:20602793, PMID:20621077, PMID:21153663, PMID:21302115, PMID:21446359, PMID:21479984, PMID:21677401, PMID:21874587, PMID:21931771, PMID:21989994, PMID:22018328, PMID:22165289, PMID:22171972, PMID:22237549, PMID:22293322, PMID:22906047, PMID:22963798, PMID:22992668, PMID:23006493, PMID:23144702, PMID:23365477, PMID:23479361, PMID:23757202, PMID:23926329, PMID:23965028, PMID:24033266, PMID:24101478, PMID:24460025, PMID:24505519, PMID:24586352, PMID:25141282, PMID:25201310, PMID:25326637, PMID:25440321, PMID:25541721, PMID:25548459, PMID:25741868, PMID:25775246, PMID:26060661, PMID:26226515, PMID:26633385, PMID:26823837, PMID:26829728, PMID:27040960, PMID:27053284, PMID:27213370, PMID:27287612, PMID:27535533, PMID:27880809, PMID:28195434, PMID:28492532, PMID:29072585, PMID:29339739, PMID:30045279, PMID:30097005, PMID:30311386, PMID:30315739, PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: 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, PMID:29339739, PMID:30315739 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
GLUT1 Deficiency Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Progressive extrapyramidal movement disorder ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
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 type 1 deficiency syndrome
ClinVar Annotator: match by term: Glut1 deficiency syndrome 1, autosomal recessive
DNA:deletions: :multiple
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1714544, PMID:8808284, PMID:9335548, PMID:9462754, PMID:10766892, PMID:10980529, PMID:11076005, PMID:11102982, PMID:11136715, PMID:11389907, PMID:11477212, PMID:11603379, PMID:12325075, PMID:12752470, PMID:15622525, PMID:16217704, PMID:16949238, PMID:17052934, PMID:17489814, PMID:17718830, PMID:18403583, PMID:18414213, PMID:18451999, PMID:18577546, PMID:18606970, PMID:19630075, PMID:19798636, PMID:19996082, PMID:20129935, PMID:20221955, PMID:20301603, PMID:20417043, PMID:20574033, PMID:20687207, PMID:21069159, PMID:21135204, PMID:21546317, PMID:21555602, PMID:21791420, PMID:21832227, PMID:21865127, PMID:22282645, PMID:22492876, PMID:22704013, PMID:22976442, PMID:23106342, PMID:23280796, PMID:23306390, PMID:23340081, PMID:23443458, PMID:23448551, PMID:24080273, PMID:24215330, PMID:24847886, PMID:24963779, PMID:25022942, PMID:25099510, PMID:25167861, PMID:25326635, PMID:25381171, PMID:25487684, PMID:25564316, PMID:25741868, PMID:25914049, PMID:25982116, PMID:26193382, PMID:26216499, PMID:26267703, PMID:26304067, PMID:26336901, PMID:26467025, PMID:26537434, PMID:26598494, PMID:26615598, PMID:26982753, PMID:27351150, PMID:28018440, PMID:28116237, PMID:28492532, PMID:28554332, PMID:28717674, PMID:28961260, PMID:30311386, PMID:30588498, PMID:9462754, PMID:22683290, PMID:20382060, PMID:22011817 RGD:1624245, RGD:12879476, RGD:12879473, RGD:12879464 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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
PMID:8651297, PMID:9719371, PMID:10736265, PMID:10737976, PMID:9719371 RGD:1601343 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
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, PMID:23430490, PMID:24033266, PMID:25602008, PMID:26984562, PMID:28492532, PMID:29374762 NCBI chr 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
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, PMID:8182131, PMID:8211187, PMID:8733042, PMID:8734807, PMID:9332655, PMID:10070617, PMID:10612834, PMID:10738525, PMID:10834516, PMID:10874313, PMID:11310582, PMID:11739393, PMID:11949931, PMID:12093795, PMID:12373566, PMID:15316959, PMID:18008183, PMID:18449899, PMID:19815695, PMID:20301489, PMID:21599942, PMID:23312056, PMID:24033266, PMID:24082139, PMID:24385852, PMID:25308557, PMID:25333069, PMID:25741868, PMID:28397058, PMID:28492532, PMID:32313153 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:2510307, PMID:3132435, PMID:7717400, PMID:7881425, PMID:7981676, PMID:8558570, PMID:8990003, PMID:9535769, PMID:12897283, PMID:14695532, PMID:15985590, PMID:16702877, PMID:16737883, PMID:16917947, PMID:17092519, PMID:17151339, PMID:17210890, PMID:17616415, PMID:17853454, PMID:18458862, PMID:19542901, PMID:19790257, PMID:19862843, PMID:20202878, PMID:20301438, PMID:21109266, PMID:21232767, PMID:21439876, PMID:21471980, PMID:21631931, PMID:21757382, PMID:22595200, PMID:22613277, PMID:22676651, PMID:23430493, PMID:23531252, PMID:23884227, PMID:24008051, PMID:24033266, PMID:24107549, PMID:24150945, PMID:24158270, PMID:24245577, PMID:24444888, PMID:24590251, PMID:25093132, PMID:25213570, PMID:25356970, PMID:25526786, PMID:25673129, PMID:25741868, PMID:26231297, PMID:27099502, PMID:27170567, PMID:27189384, PMID:27363342, PMID:27649523, PMID:28433475, PMID:28492532, PMID:29124014, PMID:32860008 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 2:104,916,734...104,958,219
Ensembl chr 2:104,916,738...104,958,034
JBrowse link
G Gys2 glycogen synthase 2 ISO Glycogen storage disease type 0, OMIM:240600
ClinVar Annotator: match by term: Glycogen storage disease
ClinVar PMID:9691087, PMID:12072888, PMID:20051115, PMID:24033266, PMID:25070466, PMID:25741868, PMID:28245189, PMID:28492532, PMID:9691087 RGD:1600764 NCBI chr 4:176,638,632...176,679,805
Ensembl chr 4:176,638,629...176,679,815
JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:8037209, PMID:8880699, PMID:9389749, PMID:24033266, PMID:28492532 NCBI chr 7:139,702,066...139,722,132
Ensembl chr 7:139,685,573...139,722,132
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO DNA:missense mutation RGD PMID:12825073 RGD:1599893 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
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 PMID:7711737, PMID:7711737 RGD:1601388 NCBI chr  X:35,970,650...36,926,616 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 1:199,019,298...199,032,053
Ensembl chr 1:199,019,289...199,032,052
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO RGD PMID:15877279 RGD:1580717 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Pygl glycogen phosphorylase L ISO RGD PMID:9536091 RGD:1599374 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
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 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
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, PMID:10940311, PMID:11071391, PMID:12373567, PMID:15953877, PMID:22899091, PMID:24033266, PMID:24646511, PMID:25288127, PMID:26913919, PMID:28224773, PMID:28492532 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
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, PMID:16337419, PMID:18341095, PMID:20051115, PMID:24033266, PMID:25070466, PMID:25741868, PMID:28245189, PMID:28492532 NCBI chr 4:176,638,632...176,679,805
Ensembl chr 4:176,638,629...176,679,815
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 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
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:10102713, PMID:17182944, PMID:17928598, PMID:18414213, PMID:19699667, PMID:25741868, PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
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, PMID:7668282, PMID:7744838, PMID:7814621, PMID:8163185, PMID:8182131, PMID:8211187, PMID:8733042, PMID:8734807, PMID:9001800, PMID:9332655, PMID:9359038, PMID:9506659, PMID:9630072, PMID:9700612, PMID:9705299, PMID:10070617, PMID:10094563, PMID:10234610, PMID:10322403, PMID:10447271, PMID:10604148, PMID:10612834, PMID:10738525, PMID:10748407, PMID:10797430, PMID:10834516, PMID:10874313, PMID:10944847, PMID:10960498, PMID:11058903, PMID:11058910, PMID:11161844, PMID:11310582, PMID:11386847, PMID:11596659, PMID:11739393, PMID:11916325, PMID:11949931, PMID:12093795, PMID:12373566, PMID:12713862, PMID:15151508, PMID:15316959, PMID:15455297, PMID:15542400, PMID:15918042, PMID:16435186, PMID:17607665, PMID:17994282, PMID:18008183, PMID:18083610, PMID:18449899, PMID:19541498, PMID:19762333, PMID:19815695, PMID:20301489, PMID:20509832, PMID:20532819, PMID:21599942, PMID:21983240, PMID:22909800, PMID:23000067, PMID:23046672, PMID:23312056, PMID:23352793, PMID:23486339, PMID:24033266, PMID:24082139, PMID:24385852, PMID:24565827, PMID:24980439, PMID:25308557, PMID:25333069, PMID:25741868, PMID:27511118, PMID:28360385, PMID:28397058, PMID:28492532, PMID:28659124, PMID:29374762, PMID:30279644, PMID:30311386, PMID:30956637, PMID:32313153 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Slc37a4 solute carrier family 37 member 4 TAS
ISO
ISS
ClinVar Annotator: match by term: Glycogen storage disease, type I
OMIM:232200 | OMIM:232220 | OMIM:232240
ClinVar
MouseDO
PMID:9758626, PMID:10482962, PMID:10923042, PMID:10940311, PMID:12444104, PMID:15669677, PMID:15757503, PMID:17994282, PMID:22899091, PMID:25741868, PMID:26913919, PMID:28492532, PMID:28685844, PMID:30311386, PMID:9822626 RGD:61591 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
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
PMID:2172641, PMID:7525963, PMID:7573034, PMID:7623438, PMID:7655466, PMID:7668282, PMID:7744838, PMID:7814621, PMID:8163185, PMID:8182131, PMID:8211187, PMID:8733042, PMID:8734807, PMID:9001800, PMID:9332655, PMID:9359038, PMID:9506659, PMID:9630072, PMID:9700612, PMID:9705299, PMID:10070617, PMID:10094563, PMID:10234610, PMID:10322403, PMID:10447271, PMID:10604148, PMID:10612834, PMID:10738525, PMID:10748407, PMID:10797430, PMID:10834516, PMID:10874313, PMID:10944847, PMID:10960498, PMID:11058903, PMID:11058910, PMID:11161844, PMID:11310582, PMID:11386847, PMID:11596659, PMID:11739393, PMID:11916325, PMID:11949931, PMID:12093795, PMID:12373566, PMID:12713862, PMID:15151508, PMID:15316959, PMID:15455297, PMID:15542400, PMID:15918042, PMID:16435186, PMID:17607665, PMID:17994282, PMID:18008183, PMID:18083610, PMID:18449899, PMID:19541498, PMID:19762333, PMID:19815695, PMID:20301489, PMID:20509832, PMID:20532819, PMID:21599942, PMID:21983240, PMID:22909800, PMID:23000067, PMID:23046672, PMID:23312056, PMID:23352793, PMID:23486339, PMID:24033266, PMID:24082139, PMID:24385852, PMID:24565827, PMID:24980439, PMID:25308557, PMID:25333069, PMID:25741868, PMID:27511118, PMID:28360385, PMID:28397058, PMID:28492532, PMID:28659124, PMID:29374762, PMID:30279644, PMID:30311386, PMID:30956637, PMID:32313153, PMID:11851840, PMID:20389290, PMID:24717294 RGD:14695549, RGD:14695538, RGD:14695534 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
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 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
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 8:49,220,441...49,227,273
Ensembl chr 8:49,220,443...49,227,273
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,805,684...48,835,794
Ensembl chr 8:48,805,684...48,834,312
JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,297,604...49,309,370
Ensembl chr 8:49,297,608...49,308,806
JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,274,553...49,280,943
Ensembl chr 8:49,274,960...49,280,901
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 8:48,729,695...48,736,574
Ensembl chr 8:48,729,835...48,736,506
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 8:48,835,688...48,852,032
Ensembl chr 8:48,836,957...48,850,671
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,924,768...48,961,394
Ensembl chr 8:48,925,604...48,958,026
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 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,754,300...48,762,765
Ensembl chr 8:48,754,736...48,762,342
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,075,978...49,097,689
Ensembl chr 8:49,077,053...49,097,686
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 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,378,644...49,408,894
Ensembl chr 8:49,378,644...49,410,088
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
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 8:49,342,067...49,353,080
Ensembl chr 8:49,342,067...49,353,080
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 8:49,354,257...49,374,444
Ensembl chr 8:49,354,115...49,376,687
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 8:48,997,189...49,045,176
Ensembl chr 8:48,997,184...49,045,154
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,727,346...48,729,722
Ensembl chr 8:48,727,618...48,729,580
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 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
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 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO DNA:missense mutation:cds:p.G339C (human)
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
PMID:9428641, PMID:9675154, PMID:9758626, PMID:10026167, PMID:10323254, PMID:10482875, PMID:10482962, PMID:10518030, PMID:10874322, PMID:10923042, PMID:10931421, PMID:10940311, PMID:11071391, PMID:11949931, PMID:12373566, PMID:12373567, PMID:12409273, PMID:12444104, PMID:15059622, PMID:15260472, PMID:15669677, PMID:15757503, PMID:15906092, PMID:15953877, PMID:17307551, PMID:17994282, PMID:18337460, PMID:18437526, PMID:18835800, PMID:18996862, PMID:19454374, PMID:20386986, PMID:20578944, PMID:21575371, PMID:21983240, PMID:22899091, PMID:24033266, PMID:24385852, PMID:24565827, PMID:24646511, PMID:24745989, PMID:25288127, PMID:25741868, PMID:25982172, PMID:26913919, PMID:27066451, PMID:28224773, PMID:28492532, PMID:28685844, PMID:29119402, PMID:29146883, PMID:29581464, PMID:30311386, PMID:31508908, PMID:31617422, PMID:9428641 RGD:1599000 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,100,759...49,106,258
Ensembl chr 8:49,100,759...49,106,177
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,469,804...49,503,304
Ensembl chr 8:49,469,503...49,502,647
JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,723,755...48,727,182
Ensembl chr 8:48,723,191...48,727,154
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,983,802...48,998,072
Ensembl chr 8:48,983,802...48,997,191
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,106,374...49,109,981
Ensembl chr 8:49,106,374...49,109,981
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,229,713...49,271,894
Ensembl chr 8:49,229,717...49,271,834
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,772,906...48,774,898
Ensembl chr 8:48,772,906...48,774,898
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 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295
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, PMID:10482962, PMID:10923042, PMID:10940311, PMID:11071391, PMID:12373567, PMID:15757503, PMID:15953877, PMID:22899091, PMID:24033266, PMID:24646511, PMID:25288127, PMID:25741868, PMID:26913919, PMID:28224773, PMID:28492532 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
glycogen storage disease II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:18414213, PMID:23757202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Glycogen storage disease, type II
ClinVar Annotator: match by term: Alpha-1,4-glucosidase deficiency
ClinVar Annotator: match by OMIM:232300
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
OMIM
ClinVar
CTD
PMID:1109266, PMID:1652892, PMID:1856189, PMID:1862843, PMID:1895140, PMID:1898413, PMID:2111708, PMID:2203258, PMID:2252923, PMID:2510307, PMID:3049072, PMID:3132435, PMID:5614309, PMID:7603530, PMID:7695647, PMID:7717400, PMID:7881422, PMID:7881425, PMID:7945303, PMID:7981676, PMID:8094613, PMID:8401535, PMID:8429042, PMID:8435067, PMID:8558570, PMID:8604985, PMID:8834250, PMID:8912788, PMID:8935410, PMID:8990003, PMID:9196050, PMID:9259196, PMID:9266392, PMID:9425285, PMID:9521422, PMID:9529346, PMID:9535769, PMID:9554747, PMID:9660056, PMID:9950376, PMID:10189220, PMID:10206684, PMID:10338092, PMID:10377006, PMID:10528311, PMID:10737124, PMID:11053688, PMID:11071489, PMID:11328962, PMID:11343339, PMID:11738358, PMID:11854868, PMID:11927738, PMID:11949932, PMID:12213618, PMID:12601120, PMID:12897283, PMID:12923862, PMID:14643388, PMID:14695532, PMID:14972326, PMID:15048888, PMID:15121988, PMID:15145338, PMID:15366815, PMID:15466083, PMID:15501829, PMID:15668445, PMID:15985590, PMID:15986226, PMID:16433701, PMID:16478160, PMID:16531044, PMID:16580018, PMID:16702877, PMID:16737883, PMID:16782080, PMID:16838077, PMID:16857770, PMID:16860134, PMID:16917947, PMID:17027861, PMID:17041744, PMID:17056254, PMID:17092519, PMID:17151339, PMID:17210890, PMID:17213836, PMID:17573812, PMID:17616415, PMID:17643989, PMID:17723315, PMID:17805474, PMID:17853454, PMID:17915575, PMID:18176891, PMID:18211760, PMID:18285536, PMID:18301443, PMID:18414213, PMID:18425781, PMID:18429042, PMID:18434155, PMID:18458862, PMID:18495398, PMID:18505979, PMID:18535739, PMID:18607768, PMID:18757064, PMID:18995995, PMID:19046416, PMID:19067231, PMID:19343043, PMID:19472353, PMID:19542901, PMID:19588081, PMID:19609281, PMID:19775921, PMID:19790257, PMID:19862843, PMID:19948615, PMID:20033296, PMID:20080426, PMID:20202878, PMID:20301438, PMID:20308911, PMID:20472203, PMID:20559845, PMID:20638881, PMID:20817528, PMID:20826098, PMID:20830524, PMID:21039225, PMID:21109266, PMID:21179066, PMID:21216089, PMID:21228398, PMID:21232767, PMID:21439876, PMID:21471980, PMID:21484825, PMID:21488291, PMID:21488292, PMID:21550241, PMID:21605996, PMID:21631931, PMID:21637107, PMID:21644219, PMID:21676566, PMID:21687968, PMID:21704464, PMID:21757382, PMID:21803581, PMID:21889385, PMID:21920843, PMID:21926084, PMID:21940687, PMID:21963784, PMID:21972175, PMID:21982629, PMID:21984055, PMID:22027144, PMID:22081099, PMID:22194990, PMID:22196155, PMID:22237443, PMID:22252923, PMID:22253258, PMID:22521436, PMID:22538254, PMID:22555271, PMID:22595200, PMID:22613277, PMID:22644586, PMID:22658377, PMID:22676651, PMID:22704482, PMID:22711147, PMID:22791670, PMID:22958975, PMID:22980766, PMID:22990675, PMID:23000108, PMID:23013746, PMID:23062590, PMID:23146291, PMID:23147228, PMID:23160972, PMID:23266370, PMID:23350563, PMID:23402890, PMID:23418865, PMID:23430493, PMID:23430847, PMID:23430912, PMID:23430949, PMID:23463700, PMID:23531252, PMID:23566438, PMID:23601496, PMID:23632029, PMID:23632174, PMID:23668440, PMID:23757202, PMID:23787031, PMID:23825616, PMID:23843830, PMID:23884227, PMID:24008051, PMID:24008937, PMID:24011652, PMID:24016645, PMID:24027232, PMID:24033266, PMID:24107549, PMID:24150945, PMID:24158270, PMID:24169249, PMID:24190153, PMID:24215330, PMID:24245577, PMID:24269976, PMID:24273659, PMID:24337590, PMID:24338761, PMID:24383498, PMID:24384324, PMID:24395639, PMID:24444888, PMID:24495340, PMID:24513544, PMID:24590251, PMID:24627108, PMID:24715333, PMID:24844452, PMID:24872213, PMID:24923245, PMID:24976573, PMID:25026126, PMID:25036864, PMID:25037089, PMID:25052852, PMID:25093132, PMID:25103075, PMID:25139343, PMID:25155446, PMID:25213570, PMID:25243733, PMID:25326635, PMID:25356970, PMID:25388776, PMID:25396301, PMID:25409744, PMID:25451853, PMID:25455803, PMID:25466677, PMID:25488666, PMID:25525159, PMID:25526786, PMID:25544546, PMID:25612604, PMID:25614309, PMID:25626711, PMID:25673129, PMID:25681614, PMID:25687635, PMID:25703594, PMID:25712382, PMID:25741864, PMID:25741868, PMID:25752415, PMID:25783438, PMID:25786784, PMID:25846667, PMID:25998610, PMID:26031770, PMID:26160551, PMID:26167453, PMID:26199952, PMID:26231297, PMID:26253708, PMID:26310554, PMID:26349193, PMID:26497565, PMID:26572913, PMID:26575883, PMID:26693141, PMID:26830551, PMID:26873529, PMID:26946079, PMID:27008195, PMID:27099502, PMID:27142047, PMID:27170567, PMID:27183828, PMID:27189384, PMID:27193587, PMID:27344650, PMID:27363342, PMID:27417441, PMID:27623443, PMID:27649523, PMID:27666774, PMID:27692865, PMID:27708273, PMID:27711114, PMID:27896092, PMID:27927596, PMID:28032299, PMID:28182897, PMID:28196920, PMID:28394184, PMID:28433475, PMID:28450385, PMID:28490439, PMID:28492532, PMID:28592009, PMID:28600779, PMID:28648663, PMID:28657663, PMID:28763149, PMID:28838325, PMID:28957316, PMID:29044175, PMID:29046207, PMID:29061980, PMID:29122469, PMID:29124014, PMID:29143201, PMID:29149851, PMID:29181627, PMID:29205646, PMID:29289479, PMID:29422078, PMID:29428273, PMID:29451150, PMID:29573408, PMID:29637184, PMID:29653542, PMID:29869463, PMID:30023291, PMID:30049495, PMID:30105547, PMID:30155607, PMID:30214072, PMID:30311386, PMID:30442156, PMID:30510819, PMID:30564623, PMID:30595407, PMID:31076647, PMID:31086307, PMID:31193175, PMID:31254424, PMID:31342611, PMID:31467850, PMID:31510962, PMID:31743840, PMID:32012848, PMID:32317649, PMID:32860008 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
glycogen storage disease III 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 susceptibility ISO DNA:missense mutations, frameshift mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Glycogen storage disease type III
ClinVar Annotator: match by OMIM:232400
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8702417, PMID:8755644, PMID:8990006, PMID:9332391, PMID:9412782, PMID:9490286, PMID:9584265, PMID:10472540, PMID:10655153, PMID:10801050, PMID:10925384, PMID:10982190, PMID:11378828, PMID:11757581, PMID:11924557, PMID:11949933, PMID:11977176, PMID:12442284, PMID:12955720, PMID:15542399, PMID:15833157, PMID:16189622, PMID:16705713, PMID:17047887, PMID:17895567, PMID:17915576, PMID:17994282, PMID:18617770, PMID:18785866, PMID:18924225, PMID:19299494, PMID:19754354, PMID:19834502, PMID:19951465, PMID:19951495, PMID:20071996, PMID:20490926, PMID:20526204, PMID:20648714, PMID:21228398, PMID:21321962, PMID:21691223, PMID:22089644, PMID:22899091, PMID:22995991, PMID:23062577, PMID:23207808, PMID:23430490, PMID:23430832, PMID:23430941, PMID:24033266, PMID:24257475, PMID:24495762, PMID:24700805, PMID:24824133, PMID:25388549, PMID:25431232, PMID:25451272, PMID:25451950, PMID:25602008, PMID:25741868, PMID:25827695, PMID:26885414, PMID:26913919, PMID:26984562, PMID:27088557, PMID:27106217, PMID:27460348, PMID:28039895, PMID:28074886, PMID:28492532, PMID:28888851, PMID:29374762, PMID:29614965, PMID:30916492, PMID:87556440, PMID:16705713, PMID:15118671 RGD:1601129, RGD:1331525 NCBI chr 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
Glycogen Storage Disease IIIA 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 null
ClinVar Annotator: match by term: Glycogen storage disease IIIa
ClinVar PMID:8702417, PMID:8990006, PMID:9412782, PMID:9490286, PMID:10571954, PMID:10655153, PMID:10801050, PMID:10982190, PMID:11378828, PMID:11924557, PMID:12442284, PMID:15542399, PMID:16189622, PMID:16705713, PMID:17908927, PMID:18785866, PMID:18924225, PMID:19299494, PMID:19834502, PMID:19951465, PMID:20490926, PMID:20648714, PMID:21691223, PMID:22089644, PMID:22899091, PMID:23062577, PMID:23207808, PMID:23430490, PMID:24257475, PMID:25602008, PMID:25741868, PMID:25827695, PMID:26913919, PMID:26984562, PMID:27460348, PMID:28492532, PMID:29614965, PMID:31319225 NCBI chr 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
Glycogen Storage Disease IIIB 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 DNA:mutations:exon:
ClinVar Annotator: match by term: Glycogen storage disease IIIb
ClinVar PMID:8755644, PMID:9490286, PMID:10655153, PMID:10801050, PMID:10925384, PMID:11924557, PMID:20071996, PMID:20490926, PMID:20526204, PMID:20648714, PMID:22089644, PMID:23430490, PMID:25741868, PMID:25827695, PMID:26984562, PMID:28492532, PMID:8755644 RGD:1566516 NCBI chr 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
Glycogen Storage Disease IIIC 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 IIIc ClinVar PMID:19299494, PMID:19834502 NCBI chr 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
glycogen storage disease IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa glucosidase, alpha, acid treatment ISO RGD PMID:27747161 RGD:25671409 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO DNA:deletion,DNA:point mutations:Y329S,L224P,R515C,F257L,R524X
ClinVar Annotator: match by term: Glycogen storage disease, type IV
ClinVar Annotator: match by term: Glycogenosis 4
ClinVar Annotator: match by term: GBE1-Related Disorders
ClinVar Annotator: match by OMIM:232500
ClinVar
OMIM
PMID:1375445, PMID:8247964, PMID:8613547, PMID:9851430, PMID:10384399, PMID:10545044, PMID:10762170, PMID:11949934, PMID:12874416, PMID:12913206, PMID:14755501, PMID:15019703, PMID:15452297, PMID:15520786, PMID:16278887, PMID:17662246, PMID:17915577, PMID:17994551, PMID:18230843, PMID:19438752, PMID:19813197, PMID:20058079, PMID:20479904, PMID:20655781, PMID:21917543, PMID:22106711, PMID:22305237, PMID:23034915, PMID:23218673, PMID:23266647, PMID:23607684, PMID:24033266, PMID:24082139, PMID:24248152, PMID:25133958, PMID:25489661, PMID:25544507, PMID:25665141, PMID:25728520, PMID:25741868, PMID:26166723, PMID:26199317, PMID:26385640, PMID:26670585, PMID:26752647, PMID:26789422, PMID:26886200, PMID:27107456, PMID:28492532, PMID:28507268, PMID:28716262, PMID:28973083, PMID:30293248, PMID:30311141, PMID:30311386, PMID:30569318, PMID:31207142, PMID:31209396, PMID:31319225, PMID:8613547 RGD:1601279 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type IV ClinVar NCBI chr 3:147,793,014...147,809,941
Ensembl chr 3:147,793,017...147,809,919
JBrowse link
glycogen storage disease IXa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP
ClinVar Annotator: match by term: Glycogen storage disease type IXa1
DNA:mutations:multiple
DNA:missense mutations:multiple
ClinVar Annotator: match by term: GSD VIII
ClinVar Annotator: match by term: Glycogen storage disease IXa2
ClinVar Annotator: match by OMIM:306000
OMIM
ClinVar
PMID:2303074, PMID:5306139, PMID:7711737, PMID:7847371, PMID:7959740, PMID:8733133, PMID:8733134, PMID:9600238, PMID:9835437, PMID:9870210, PMID:10330341, PMID:11286390, PMID:12862311, PMID:12872839, PMID:17689125, PMID:18950708, PMID:21634085, PMID:21646031, PMID:21857251, PMID:21911307, PMID:22899091, PMID:23578772, PMID:24055370, PMID:25070466, PMID:25266922, PMID:25741868, PMID:25741869, PMID:26157701, PMID:27103379, PMID:28468868, PMID:28492532, PMID:28600779, PMID:28627441, PMID:30659246, PMID:28627441, PMID:8733134, PMID:28283841 RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:35,970,650...36,926,616 JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkb phosphorylase kinase regulatory subunit beta ISO ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar Annotator: match by OMIM:261750
OMIM
ClinVar
PMID:9215682, PMID:9402963, PMID:12825073, PMID:17689125, PMID:18950708, PMID:21646031, PMID:25070466, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr19:22,031,684...22,281,788
Ensembl chr19:22,033,228...22,281,778
JBrowse link
glycogen storage disease IXc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by OMIM:613027
ClinVar Annotator: match by term: Glycogen storage disease IXc
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:2558039, PMID:6962066, PMID:7562285, PMID:8896567, PMID:9384616, PMID:10905889, PMID:12930917, PMID:17689125, PMID:24102521, PMID:24389071, PMID:25741868, PMID:28492532 NCBI chr 1:199,019,298...199,032,053
Ensembl chr 1:199,019,289...199,032,052
JBrowse link
glycogen storage disease IXd term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd
ClinVar Annotator: match by term: GSD IXd
ClinVar Annotator: match by OMIM:300559
OMIM
ClinVar
PMID:2252364, PMID:7874115, PMID:8145916, PMID:9731190, PMID:12825073, PMID:15637709, PMID:18401027, PMID:22238410, PMID:25741868, PMID:28492532 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
glycogen storage disease V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12666117 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISS OMIM:232600 MouseDO NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO DNA:deletion:exon
ClinVar Annotator: match by term: Glycogen storage disease, type V
ClinVar Annotator: match by term: McArdle disease, mild
ClinVar Annotator: match by OMIM:232600
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1067063, PMID:2391551, PMID:2703328, PMID:3458722, PMID:3466902, PMID:3476861, PMID:4513544, PMID:7951211, PMID:7951262, PMID:8279469, PMID:8316268, PMID:8401511, PMID:8535454, PMID:9120482, PMID:9131647, PMID:9152836, PMID:9506549, PMID:9633816, PMID:9674815, PMID:10417800, PMID:10450796, PMID:10590419, PMID:10679948, PMID:10681080, PMID:10714589, PMID:11168025, PMID:11706962, PMID:11749054, PMID:12031624, PMID:12223025, PMID:12398832, PMID:12508303, PMID:12666117, PMID:12929201, PMID:14568816, PMID:14638972, PMID:14722619, PMID:14748827, PMID:15979037, PMID:16154688, PMID:16786513, PMID:16793208, PMID:16924035, PMID:17172620, PMID:17221871, PMID:17324573, PMID:17404776, PMID:17630210, PMID:17705025, PMID:17915571, PMID:17994553, PMID:18067156, PMID:18162322, PMID:18380285, PMID:18641458, PMID:19232494, PMID:19251976, PMID:19433441, PMID:19472443, PMID:19670320, PMID:20301518, PMID:21658951, PMID:21802952, PMID:21880526, PMID:22250184, PMID:22730558, PMID:22818872, PMID:22832773, PMID:23653251, PMID:24033266, PMID:24503134, PMID:25044680, PMID:25045239, PMID:25240406, PMID:25525159, PMID:25740218, PMID:25741863, PMID:25741868, PMID:25873271, PMID:25914343, PMID:25987006, PMID:26032558, PMID:26633542, PMID:26913921, PMID:26944031, PMID:28492532, PMID:28967462, PMID:29143597, PMID:29382405, PMID:30415384, PMID:31319225, PMID:9633816 RGD:1599985 NCBI chr 1:221,756,325...221,771,142
Ensembl chr 1:221,756,286...221,771,143
JBrowse link
glycogen storage disease VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pygl glycogen phosphorylase L ISO
IAGP
DNA:SNPs,insertions,deletions:exons,introns:multiple
DNA:mutation:multiple
ClinVar Annotator: match by term: Glycogen storage disease, type VI
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:232700
OMIM
ClinVar
CTD
PMID:9529348, PMID:9536091, PMID:12809646, PMID:17705025, PMID:21646031, PMID:22899091, PMID:24033266, PMID:25266922, PMID:25741868, PMID:28492532, PMID:21646031, PMID:17705025 RGD:21079734, RGD:11071447 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
glycogen storage disease VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha ISS OMIM:232800 MouseDO NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Glycogen storage disease, type VII
ClinVar Annotator: match by OMIM:232800
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1833270, PMID:2140573, PMID:7479776, PMID:7513946, PMID:7603526, PMID:7825568, PMID:8037209, PMID:8444874, PMID:8659544, PMID:8880699, PMID:8889589, PMID:9389749, PMID:9443500, PMID:14339001, PMID:24011984, PMID:24033266, PMID:25741868, PMID:27066546, PMID:28492532, PMID:28779239, PMID:1533013 RGD:1599108 NCBI chr 7:139,702,066...139,722,132
Ensembl chr 7:139,685,573...139,722,132
JBrowse link
Glycogen Storage Disease XI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A
ClinVar Annotator: match by OMIM:612933
OMIM
ClinVar
PMID:1953713, PMID:1959923, PMID:2334430, PMID:3092644, PMID:8327147, PMID:26838040, PMID:28492532 NCBI chr 1:102,900,288...102,909,713
Ensembl chr 1:102,900,286...102,909,707
JBrowse link
Glycogen Storage Disease XII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Aldoa deficiency OMIM
ClinVar
PMID:2825199, PMID:8598869, PMID:28492532 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: Aldoa deficiency
ClinVar Annotator: match by term: GSD XII
ClinVar PMID:2825199, PMID:8598869, PMID:28492532 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
Glycogen Storage Disease XIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Enolase 3 deficiency
ClinVar Annotator: match by term: GSD XIII
ClinVar Annotator: match by OMIM:612932
OMIM
ClinVar
PMID:11506403, PMID:25267339, PMID:25741868, PMID:28492532 NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
JBrowse link
glycogen storage disease XV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XV
ClinVar Annotator: match by OMIM:613507
OMIM
ClinVar
PMID:20357282, PMID:22198226, PMID:24033266, PMID:25272951, PMID:25741868, PMID:26652229, PMID:27718144, PMID:28453664, PMID:28492532, PMID:29143313, PMID:29264399, PMID:30311386 NCBI chr 2:104,916,734...104,958,219
Ensembl chr 2:104,916,738...104,958,034
JBrowse link
glycoproteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:16200072, PMID:16465621, PMID:16630736, PMID:19634183, PMID:27662472, PMID:28492532 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: I cell disease
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar PMID:15633164, PMID:16094673, PMID:16116615, PMID:16200072, PMID:16465621, PMID:16630736, PMID:18190596, PMID:19197337, PMID:19617216, PMID:19634183, PMID:19659762, PMID:19938078, PMID:20147709, PMID:20301728, PMID:20886637, PMID:20944643, PMID:21416587, PMID:21549105, PMID:23192343, PMID:23566849, PMID:23926388, PMID:24045841, PMID:24375680, PMID:24550498, PMID:24767253, PMID:25107912, PMID:25505245, PMID:25525159, PMID:25741868, PMID:26130485, PMID:26749367, PMID:27180337, PMID:27662472, PMID:27710913, PMID:28095893, PMID:28492532, PMID:29704188, PMID:29872134, PMID:30311386 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC RGD PMID:10712439 RGD:1599045 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Neu1 neuraminidase 1 ISS
ISO
OMIM:256550
ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME
MouseDO
ClinVar
PMID:9054950, PMID:10767332, PMID:11063730, PMID:11279074, PMID:11470272, PMID:11702224, PMID:11829139, PMID:14695530, PMID:15908988, PMID:16712870, PMID:19568825, PMID:24808020, PMID:25153125, PMID:25741868, PMID:26141460, PMID:28492532, PMID:30023283 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
GSD IV, Classic Hepatic 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: GSD IV, CLASSIC HEPATIC ClinVar PMID:8613547, PMID:9851430, PMID:10762170, PMID:11949934, PMID:15452297, PMID:20655781, PMID:22106711, PMID:23034915, PMID:23607684, PMID:24082139, PMID:24248152, PMID:25133958, PMID:25665141, PMID:25741868, PMID:26199317, PMID:26385640, PMID:28492532, PMID:30311386 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
GSD IV, combined hepatic and myopathic 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: Glycogen storage disease IV, combined hepatic and myopathic ClinVar PMID:10545044, PMID:10762170, PMID:12874416, PMID:15452297, PMID:20479904, PMID:28492532 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
GSD IV, Neuromuscular Form, Childhood 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: GSD IV, NEUROMUSCULAR FORM, CHILDHOOD ClinVar PMID:8613547, PMID:15452297, PMID:26886200, PMID:28492532 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
GSD IV, Neuromuscular Form, Congenital 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: GSD IV, NEUROMUSCULAR FORM, CONGENITAL ClinVar PMID:8059607, PMID:8613547, PMID:15019703, PMID:15452297, PMID:16528737, PMID:17662246, PMID:25741868 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
GSD IV, Neuromuscular Form, Fatal Perinatal 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 DNA:missense mutations, nonsense mutation, splice site mutation:exons, intron: multiple RGD PMID:30303820 RGD:18337290 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
hereditary fructose intolerance syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO RGD PMID:25637246 RGD:13673876 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldob aldolase, fructose-bisphosphate B susceptibility ISO ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency
ClinVar Annotator: match by term: Fructose intolerance
ClinVar Annotator: match by term: Hereditary fructose intolerance
ClinVar Annotator: match by OMIM:229600
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1856829, PMID:1967768, PMID:2203259, PMID:2336380, PMID:2349937, PMID:2623136, PMID:3383242, PMID:6348085, PMID:7717389, PMID:8071980, PMID:8096362, PMID:8299883, PMID:8299892, PMID:8438046, PMID:8535439, PMID:8541450, PMID:9610797, PMID:10024431, PMID:10229688, PMID:10352930, PMID:10625657, PMID:10970798, PMID:11757579, PMID:12205126, PMID:12417303, PMID:12464284, PMID:15532022, PMID:15733923, PMID:15880727, PMID:16406649, PMID:16630753, PMID:18035330, PMID:18541450, PMID:19768653, PMID:20033295, PMID:20848650, PMID:20882353, PMID:21228398, PMID:22494545, PMID:22995991, PMID:23114028, PMID:23430936, PMID:24033266, PMID:25525159, PMID:25595217, PMID:25741868, PMID:26633542, PMID:26677512, PMID:26937407, PMID:27797444, PMID:28492532, PMID:30311386, PMID:31591370, PMID:32860008, PMID:15532022, PMID:8096362 RGD:1599063, RGD:1300369 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Hereditary fructose intolerance ClinVar PMID:20096397, PMID:22402862, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23663589, PMID:23670307, PMID:24033266, PMID:25741868, PMID:25891276, PMID:28492532 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Fructose intolerance ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Khk ketohexokinase treatment ISO RGD PMID:29533924 RGD:13673910 NCBI chr 6:26,810,577...26,821,013
Ensembl chr 6:26,810,579...26,820,959
JBrowse link
holocarboxylase synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,813,041...33,815,418
Ensembl chr11:33,845,463...33,847,793
JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,909,417...33,917,674
Ensembl chr11:33,909,439...33,917,674
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,132,581...34,142,813
Ensembl chr11:34,132,581...34,142,753
JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,929,142...34,027,447
Ensembl chr11:33,925,498...34,027,435
JBrowse link
G Hlcs holocarboxylase synthetase ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency
ClinVar Annotator: match by OMIM:253270
ClinVar
OMIM
PMID:6133032, PMID:7842009, PMID:8319716, PMID:8541348, PMID:8817339, PMID:9396568, PMID:9630604, PMID:9870216, PMID:10068510, PMID:10190325, PMID:10590022, PMID:10653324, PMID:11124959, PMID:11185745, PMID:11735028, PMID:12124727, PMID:12633764, PMID:15635070, PMID:16134170, PMID:16231399, PMID:17274881, PMID:17407983, PMID:18429047, PMID:18442489, PMID:18974016, PMID:19157941, PMID:19695181, PMID:20026029, PMID:20095979, PMID:21874615, PMID:21894551, PMID:22027809, PMID:24033266, PMID:24085707, PMID:24099927, PMID:24215330, PMID:24239178, PMID:25087612, PMID:25525159, PMID:25690727, PMID:25741868, PMID:26938784, PMID:27114915, PMID:27604308, PMID:28492532, PMID:12124727 RGD:1302549 NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,051,928...34,094,697
Ensembl chr11:34,051,993...34,094,698
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,781,869...33,803,121
Ensembl chr11:33,781,870...33,801,999
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,315,739...34,355,183
Ensembl chr11:34,316,295...34,354,027
JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase