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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.


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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 chrNW_004937224:23,225...32,639 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 chrNW_004936490:17,605,865...17,614,754 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 chrNW_004936594:4,125,595...4,142,261 JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chrNW_004936519:6,582,286...6,613,440 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 chrNW_004936548:5,256,185...5,309,758 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 chrNW_004936512:6,006,247...6,031,939 JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO DNA:missense mutation RGD PMID:12825073 RGD:1599893 NCBI chrNW_004936762:1,657,778...1,766,592 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 chrNW_004936844:478,773...548,565 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 chrNW_004936501:13,139,182...13,150,507 JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO RGD PMID:15877279 RGD:1580717 NCBI chrNW_004936527:6,907,723...7,168,222 JBrowse link
G Pygl glycogen phosphorylase L ISO RGD PMID:9536091 RGD:1599374 NCBI chrNW_004936495:14,692,688...14,728,663 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 chrNW_004936593:1,572,661...1,605,071 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 chrNW_004936542:3,980,538...3,987,039 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 chrNW_004936594:4,125,595...4,142,261 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 chrNW_004936692:1,160,836...1,221,270 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 chrNW_004936479:10,051,669...10,055,518 JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004936479:9,648,315...9,666,782 JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO OMIM NCBI chrNW_004936479:9,584,221...9,622,330 JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004936479:10,074,290...10,078,072 JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004936479:10,024,674...10,041,738 JBrowse link
G Rnf113a ring finger protein 113A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004936479:10,078,201...10,079,400 JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004936479:9,721,602...9,781,468 JBrowse link
G Upf3b UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004936479:10,093,290...10,111,293 JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chrNW_004936479:9,781,923...9,791,000 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 chrNW_004936505:2,077,206...2,242,079 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 chrNW_004936548:5,256,185...5,309,758 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 chrNW_004936664:2,976,325...2,977,878 JBrowse link
G Gys1 glycogen synthase 1 ISO OMIM NCBI chrNW_004936664:2,978,546...2,995,145 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 chrNW_004936490:17,605,865...17,614,754 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 chrNW_004936542:3,980,538...3,987,039 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 chrNW_004936490:17,605,865...17,614,754 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 chrNW_004936542:3,605,553...3,634,889 JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,453,287...3,461,125 JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,873,530...3,902,871 JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,400,129...3,403,628 JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,379,361...3,390,677 JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,405,084...3,412,104 JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,965,259...3,974,736 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 chrNW_004936542:3,860,536...3,872,528 JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,748,599...3,781,405 JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:4,049,107...4,054,100 JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,943,174...3,951,473 JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:4,037,888...4,046,089 JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:4,005,616...4,018,135 JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,577,387...3,597,954 JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,099,484...3,113,159 JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,284,445...3,312,190 JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,480,071...3,566,823 JBrowse link
G LOC101966907 histone H2AX ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:4,046,930...4,049,017 JBrowse link
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,332,822...3,344,663 JBrowse link
G Mpzl3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,314,921...3,332,785 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 chrNW_004936542:3,639,992...3,688,000 JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,974,796...3,977,155 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 chrNW_004936542:3,262,161...3,274,545 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 chrNW_004936542:3,236,238...3,252,550 JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO OMIM NCBI chrNW_004936542:3,980,538...3,987,039 JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,569,735...3,575,987 JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,180,260...3,216,208 JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,977,223...3,980,168 JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,688,086...3,702,067 JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,567,469...3,571,393 JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chrNW_004936542:3,929,555...3,931,754 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 chrNW_004936542:4,022,928...4,035,577 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 chrNW_004936542:3,980,538...3,987,039 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 chrNW_004936594:4,075,105...4,124,850 JBrowse link
G Gaa alpha glucosidase ISO OMIM NCBI chrNW_004936594:4,125,595...4,142,261 JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chrNW_004936567:3,052,167...3,069,077 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 chrNW_004937224:23,225...32,639 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 chrNW_004937224:23,225...32,639 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 chrNW_004937224:23,225...32,639 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 chrNW_004937224:23,225...32,639 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 chrNW_004936594:4,125,595...4,142,261 JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO OMIM NCBI chrNW_004936505:2,077,206...2,242,079 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 chrNW_004936485:18,057,569...18,071,787 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 chrNW_004936844:478,773...548,565 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 chrNW_004936475:779,238...1,002,851 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 chrNW_004936501:13,139,182...13,150,507 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 chrNW_004936762:1,657,778...1,766,592 JBrowse link
glycogen storage disease V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101968921 angiotensin-converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12666117 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO OMIM NCBI chrNW_004936599:4,551,164...4,564,109 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 chrNW_004936495:14,692,688...14,728,663 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 chrNW_004936512:6,006,247...6,031,939 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 chrNW_004936528:866,607...879,977 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: GSD XII
ClinVar Annotator: match by term: Aldoa deficiency
ClinVar PMID:2825199, PMID:8598869, PMID:28492532 NCBI chrNW_004936501:12,418,090...12,423,959 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 OMIM NCBI chrNW_004936677:2,754,117...2,760,992 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 chrNW_004936519:6,582,286...6,613,440 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 chrNW_004936505:2,077,206...2,242,079 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 chrNW_004936505:2,077,206...2,242,079 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 chrNW_004936505:2,077,206...2,242,079 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 chrNW_004936505:2,077,206...2,242,079 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 chrNW_004936505:2,077,206...2,242,079 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 chrNW_004936527:6,907,723...7,168,222 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 chrNW_004936505:2,077,206...2,242,079 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 chrNW_004936485:17,966,993...18,021,191 JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO OMIM NCBI chrNW_004936485:18,057,569...18,071,787 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 chrNW_004936485:17,812,995...17,866,492 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 chrNW_004936485:17,771,797...17,777,637 JBrowse link
G Srxn1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004936485:17,873,283...17,879,746 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 chrNW_004936485:18,034,776...18,055,741 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 chrNW_004936519:6,582,286...6,613,440 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    Nutritional and Metabolic Diseases 3467
      disease of metabolism 3467
        inherited metabolic disorder 1911
          carbohydrate metabolic disorder 355
            glycogen metabolism disorder 71
              glycogen storage disease 71
                Danon disease 9
                Glycogen Storage Disease 0, Liver 1
                Glycogen Storage Disease 0, Muscle 2
                Glycogen Storage Disease XI 1
                Glycogen Storage Disease XII 1
                Glycogen Storage Disease XIII 1
                Polyglucosan Body Disease, Adult Form 1
                Polyglucosan Body Myopathy 1 with or without Immunodeficiency 6
                Polyglucosan Body Myopathy 2 1
                congenital disorder of glycosylation It 1
                glycogen storage disease I + 33
                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 11962
    Developmental Diseases 8545
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7499
        genetic disease 7062
          inherited metabolic disorder 1911
            carbohydrate metabolic disorder 355
              glycogen metabolism disorder 71
                glycogen storage disease 71
                  Danon disease 9
                  Glycogen Storage Disease 0, Liver 1
                  Glycogen Storage Disease 0, Muscle 2
                  Glycogen Storage Disease XI 1
                  Glycogen Storage Disease XII 1
                  Glycogen Storage Disease XIII 1
                  Polyglucosan Body Disease, Adult Form 1
                  Polyglucosan Body Myopathy 1 with or without Immunodeficiency 6
                  Polyglucosan Body Myopathy 2 1
                  congenital disorder of glycosylation It 1
                  glycogen storage disease I + 33
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.