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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:glycogen storage disease
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Accession:DOID:2747 term browser browse the term
Definition:A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Synonyms:exact_synonym: glycogen storage diseases;   glycogenoses;   glycogenosis
 primary_id: MESH:D006008
 alt_id: RDO:0004069
 xref: ICD10CM:E74.0;   ICD9CM:271.0;   NCI:C61272;   OMIM:PS615895
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 1:102,506,234...102,580,183
Ensembl chr 1:101,226,120...101,299,511
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 chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
JBrowse link
G GAA alpha glucosidase 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 chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
JBrowse link
G GYG1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 3:146,015,629...146,055,412
Ensembl chr 3:153,595,624...153,632,740
JBrowse link
G GYS2 glycogen synthase 2 ISO Glycogen storage disease type 0, OMIM:240600; DNA:nonsense_mutation:CDS:R246X
ClinVar Annotator: match by term: Glycogen storage disease
RGD
ClinVar
PMID:9691087 PMID:12072888 PMID:20051115 PMID:24033266 PMID:25070466 PMID:25741868 PMID:28245189 PMID:28492532 RGD:1600764 NCBI chr12:64,693,285...64,761,855
Ensembl chr12:67,297,131...67,365,773
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 chr12:40,584,321...40,625,245
Ensembl chr12:41,459,346...41,499,476
JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO DNA:missense mutation RGD PMID:12825073 RGD:1599893 NCBI chr  X:61,816,613...61,949,179
Ensembl chr  X:71,900,762...72,033,055
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism
glycogen storage disease IXa,OMIM:306000;DNA:point mutations,deletion,insertion
CTD
RGD
PMID:7711737 RGD:1601388 NCBI chr  X:11,513,747...11,605,382
Ensembl chr  X:18,877,476...18,968,730
JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO DNA:missense mutation:cds:p.D215N (rat)
DNA:insertion, missense mutations:multiple (human)
RGD PMID:8896567 RGD:737724 NCBI chr16:24,211,929...24,221,756
Ensembl chr16:31,115,033...31,127,216
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO RGD PMID:15877279 RGD:1580717 NCBI chr 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078
JBrowse link
G PYGL glycogen phosphorylase L ISO RGD PMID:9536091 RGD:1599374 NCBI chr14:31,494,172...31,533,545
Ensembl chr14:49,746,309...49,832,786
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 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722
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 chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269
JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa
ClinVar PMID:2203258 PMID:8912788 PMID:16838077 PMID:18414213 PMID:20080426 PMID:23430949 PMID:23757202 PMID:25243733 PMID:25525159 PMID:25741868 PMID:27623443 PMID:28196920 PMID:28492532 PMID:30311386 NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
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 OMIM NCBI chr 1:62,849,451...62,916,359
Ensembl chr 1:64,658,599...64,725,496
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:108,940,756...108,984,227
Ensembl chr  X:119,355,712...119,380,449
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:109,633,770...109,654,662
Ensembl chr  X:119,820,695...119,841,598
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO OMIM NCBI chr  X:109,700,185...109,743,579
Ensembl chr  X:119,886,982...119,929,896
JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:108,935,315...108,940,237
Ensembl chr  X:119,330,105...119,334,963
JBrowse link
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:108,988,561...109,006,946
Ensembl chr  X:119,384,655...119,402,775
JBrowse link
G RHOXF1 Rhox homeobox family member 1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:109,253,343...109,261,513 JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:108,934,081...108,935,376
Ensembl chr  X:119,328,911...119,329,942
JBrowse link
G TMEM255A transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:109,530,719...109,583,320
Ensembl chr  X:119,718,047...119,770,580
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:108,897,140...108,916,620
Ensembl chr  X:119,292,231...119,311,632
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:109,521,333...109,530,467
Ensembl chr  X:119,712,818...119,714,836
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 chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
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 OMIM NCBI chr12:64,693,285...64,761,855
Ensembl chr12:67,297,131...67,365,773
JBrowse link
Glycogen Storage Disease 0, Muscle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain ISO ClinVar Annotator: match by term: Glycogen storage disease 0, muscle ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:45,966,431...45,968,015
Ensembl chr19:54,788,854...54,790,465
JBrowse link
G GYS1 glycogen synthase 1 ISO OMIM NCBI chr19:45,970,127...45,995,269
Ensembl chr19:54,761,479...54,786,726
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 chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Glycogen storage disease, type I ClinVar 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 NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269
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 human gene in a mouse model OMIM
RGD
PMID:20389290 RGD:14695538 NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
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 chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589
JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,236,010...113,243,661
Ensembl chr11:117,167,404...117,200,030
JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,735,852...113,765,811
Ensembl chr11:117,666,995...117,678,598
JBrowse link
G CD3D CD3d molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051
JBrowse link
G CD3E CD3e molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625
JBrowse link
G CD3G CD3g molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566
JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,836,400...113,853,928
Ensembl chr11:117,766,526...117,784,125
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 chr11:113,722,084...113,735,987
Ensembl chr11:117,652,368...117,664,852
JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204
JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,809,875...113,819,093
Ensembl chr11:117,740,678...117,750,262
JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005
JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771
JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,027,829...113,062,344
Ensembl chr11:116,960,436...116,994,373
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,273,198...113,364,404 JBrowse link
G LOC100994157 histone H2AX ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,932,078...113,933,679 JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209
JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,063,957...113,089,929
Ensembl chr11:116,996,090...117,022,051
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 chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391
JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,853,891...113,856,636
Ensembl chr11:117,784,075...117,787,104
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 chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500
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 chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892
JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO OMIM NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269
JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,368,595...113,384,290
Ensembl chr11:117,299,183...117,314,494
JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:112,910,223...112,953,677
Ensembl chr11:116,843,287...116,884,767
JBrowse link
G TRAPPC4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,856,661...113,861,855 JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,496,561...113,519,230
Ensembl chr11:117,426,597...117,448,445
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928
JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385
JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr11:113,768,506...113,796,564
Ensembl chr11:117,724,038...117,726,313
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 chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389
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 OMIM NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269
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 chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
JBrowse link
G GAA alpha glucosidase ISO OMIM NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
JBrowse link
G TNNT2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chr 1:176,957,298...176,976,033 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 OMIM
RGD
PMID:16705713 RGD:1601129 NCBI chr 1:102,506,234...102,580,183
Ensembl chr 1:101,226,120...101,299,511
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 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 1:102,506,234...102,580,183
Ensembl chr 1:101,226,120...101,299,511
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
RGD
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 RGD:1566516 NCBI chr 1:102,506,234...102,580,183
Ensembl chr 1:101,226,120...101,299,511
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 1:102,506,234...102,580,183
Ensembl chr 1:101,226,120...101,299,511
JBrowse link
glycogen storage disease IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAA alpha glucosidase treatment ISO RGD PMID:27747161 RGD:25671409 NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO OMIM NCBI chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
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 chr20:615,987...639,366
Ensembl chr20:386,569...409,580
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 OMIM NCBI chr  X:11,513,747...11,605,382
Ensembl chr  X:18,877,476...18,968,730
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 OMIM NCBI chr16:27,720,300...27,960,740
Ensembl chr16:46,612,053...46,853,157
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 OMIM NCBI chr16:24,211,929...24,221,756
Ensembl chr16:31,115,033...31,127,216
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 OMIM NCBI chr  X:61,816,613...61,949,179
Ensembl chr  X:71,900,762...72,033,055
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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO OMIM NCBI chr11:60,101,810...60,115,813
Ensembl chr11:63,443,609...63,457,430
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 OMIM NCBI chr14:31,494,172...31,533,545
Ensembl chr14:49,746,309...49,832,786
JBrowse link
glycogen storage disease VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PFKM phosphofructokinase, muscle ISO OMIM NCBI chr12:40,584,321...40,625,245
Ensembl chr12:41,459,346...41,499,476
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 OMIM NCBI chr11:18,432,347...18,445,694
Ensembl chr11:18,115,250...18,128,400
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 OMIM
G LOC100995352 keratin-associated protein 10-2 ISO ClinVar Annotator: match by term: GSD XII
ClinVar Annotator: match by term: Aldoa deficiency
ClinVar PMID:2825199 PMID:8598869 PMID:28492532
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 OMIM NCBI chr17:4,997,052...5,005,221
Ensembl chr17:4,986,116...4,992,876
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 OMIM NCBI chr 3:146,015,629...146,055,412
Ensembl chr 3:153,595,624...153,632,740
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 chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
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 chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
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 chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
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 chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
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 chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
JBrowse link
lethal congenital glycogen storage disease of heart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO OMIM NCBI chr 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078
JBrowse link
Polyglucosan Body Disease, Adult Form 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 OMIM NCBI chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
JBrowse link
Polyglucosan Body Myopathy 1 with or without Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSNK2A1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr20:689,494...752,092
Ensembl chr20:456,629...521,126
JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO OMIM NCBI chr20:615,987...639,366
Ensembl chr20:386,569...409,580
JBrowse link
G SCRT2 scratch family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr20:872,121...886,773 JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr20:970,380...986,368
Ensembl chr20:739,556...755,486
JBrowse link
G SRXN1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr20:855,951...862,640
Ensembl chr20:625,376...631,950
JBrowse link
G TBC1D20 TBC1 domain family member 20 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr20:644,646...670,860
Ensembl chr20:414,066...431,032
JBrowse link
G TCF15 transcription factor 15 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr20:811,907...817,971 JBrowse link
Polyglucosan Body Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GYG1 glycogenin 1 ISO OMIM NCBI chr 3:146,015,629...146,055,412
Ensembl chr 3:153,595,624...153,632,740
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12771
    Nutritional and Metabolic Diseases 3585
      disease of metabolism 3585
        inherited metabolic disorder 1968
          carbohydrate metabolic disorder 363
            glycogen metabolism disorder 75
              glycogen storage disease 75
                Danon disease 10
                Glycogen Storage Disease 0, Liver 1
                Glycogen Storage Disease 0, Muscle 2
                Glycogen Storage Disease XI 1
                Glycogen Storage Disease XII 2
                Glycogen Storage Disease XIII 1
                Polyglucosan Body Disease, Adult Form 1
                Polyglucosan Body Myopathy 1 with or without Immunodeficiency 7
                Polyglucosan Body Myopathy 2 1
                congenital disorder of glycosylation It 1
                glycogen storage disease I + 34
                glycogen storage disease II + 3
                glycogen storage disease III + 1
                glycogen storage disease IV + 3
                glycogen storage disease IX + 4
                glycogen storage disease V 2
                glycogen storage disease VI 1
                glycogen storage disease VII 1
                glycogen storage disease VIII 0
                glycogen storage disease XV 1
                lethal congenital glycogen storage disease of heart 1
Path 2
Term Annotations click to browse term
  disease 12771
    Developmental Diseases 9044
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7866
        genetic disease 7409
          inherited metabolic disorder 1968
            carbohydrate metabolic disorder 363
              glycogen metabolism disorder 75
                glycogen storage disease 75
                  Danon disease 10
                  Glycogen Storage Disease 0, Liver 1
                  Glycogen Storage Disease 0, Muscle 2
                  Glycogen Storage Disease XI 1
                  Glycogen Storage Disease XII 2
                  Glycogen Storage Disease XIII 1
                  Polyglucosan Body Disease, Adult Form 1
                  Polyglucosan Body Myopathy 1 with or without Immunodeficiency 7
                  Polyglucosan Body Myopathy 2 1
                  congenital disorder of glycosylation It 1
                  glycogen storage disease I + 34
                  glycogen storage disease II + 3
                  glycogen storage disease III + 1
                  glycogen storage disease IV + 3
                  glycogen storage disease IX + 4
                  glycogen storage disease V 2
                  glycogen storage disease VI 1
                  glycogen storage disease VII 1
                  glycogen storage disease VIII 0
                  glycogen storage disease XV 1
                  lethal congenital glycogen storage disease of heart 1
paths to the root