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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 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
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
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
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
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
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 OMIM:232240
ClinVar Annotator: match by term: GSD Ic
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:22899091, 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
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
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 ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART
ClinVar Annotator: match by term: Glycogen storage disease of heart, lethal congenital
ClinVar Annotator: match by OMIM:261740
OMIM
ClinVar
PMID:10355918, PMID:10368461, PMID:10820940, PMID:11407343, PMID:11748095, PMID:11827995, PMID:14519435, PMID:14696860, PMID:14722619, PMID:15611370, PMID:15673802, PMID:15877279, PMID:16487706, PMID:16836667, PMID:17483151, PMID:17667862, PMID:17711718, PMID:18403758, PMID:18811822, PMID:19808419, PMID:20005292, PMID:20031621, PMID:20381067, PMID:20888928, PMID:21409595, PMID:22555271, PMID:23778007, PMID:23829931, PMID:23992123, PMID:24033266, PMID:24503780, PMID:25611685, PMID:25741868, PMID:25997934, PMID:26085771, PMID:27189955, PMID:27532257, PMID:27573176, PMID:27621313, PMID:28341588, PMID:28431061, PMID:28492532, PMID:28498465, PMID:28546535, PMID:28690312, PMID:28771489, PMID:28917552, PMID:29121657, PMID:29247119, PMID:29298659, PMID:30311386 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
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 ClinVar Annotator: match by term: Polyglucosan body disease, adult
ClinVar Annotator: match by term: Adult Polyglucosan Body Disease
ClinVar Annotator: match by term: Adult polyglucosan body neuropathy
ClinVar Annotator: match by OMIM:263570
OMIM
ClinVar
PMID:1375445, PMID:8247964, PMID:8613547, PMID:9851430, PMID:10384399, PMID:10545044, PMID:10762170, PMID:11949934, PMID:12874416, PMID:14755501, PMID:15019703, PMID:15452297, PMID:15520786, PMID:16528737, PMID:17662246, PMID:19813197, PMID:20058079, PMID:20479904, PMID:20655781, PMID:22106711, PMID:22305237, PMID:23034915, PMID:23218673, PMID:23607684, PMID:24033266, PMID:24082139, PMID:24248152, PMID:25133958, PMID:25489661, PMID:25665141, PMID:25741868, PMID:26166723, PMID:26199317, PMID:26385640, PMID:26670585, PMID:26789422, PMID:26886200, PMID:27107456, PMID:28492532, PMID:28507268, PMID:28716262, PMID:30293248, PMID:30311386, PMID:30569318, PMID:31207142, PMID:31209396, PMID:31319225 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
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 chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar Annotator: match by term: Polyglucosan body myopathy, early-onset, with or without immunodeficiency
ClinVar
OMIM
PMID:2379848, PMID:18691923, PMID:23104095, PMID:23798481, PMID:23889995, PMID:25741868, PMID:28492532 NCBI chr 3:147,793,014...147,809,941
Ensembl chr 3:147,793,017...147,809,919
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 chr 3:147,585,947...147,602,343
Ensembl chr 3:147,585,947...147,597,660
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 chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
G Srxn1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:147,608,850...147,614,410
Ensembl chr 3:147,609,095...147,632,801
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 chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
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 chr 3:147,643,250...147,649,511
Ensembl chr 3:147,643,250...147,649,504
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 ClinVar Annotator: match by OMIM:616199
ClinVar Annotator: match by term: Polyglucosan body myopathy 2
ClinVar
OMIM
PMID:20357282, 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            glycogen metabolism disorder 79
              glycogen storage disease 79
                Danon disease 13
                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 3
                glycogen storage disease VI 1
                glycogen storage disease VII 2
                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 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  Danon disease 13
                  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 3
                  glycogen storage disease VI 1
                  glycogen storage disease VII 2
                  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.