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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 glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. (DO)
Synonyms:exact_synonym: glycogen storage diseases;   glycogenoses;   glycogenosis
 primary_id: MESH:D006008
 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 More... NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 More... NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:7981676 PMID:9535769 PMID:17092519 PMID:18458862 PMID:19790257 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:15452297 PMID:16199547 PMID:17662246 PMID:19813197 PMID:20058079 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797 		JBrowse link
G Gys2 glycogen synthase 2 ISO Glycogen storage disease type 0, OMIM:240600
ClinVar Annotator: match by term: Glycogen storage disease		 ClinVar
RGD		 PMID:9691087 PMID:12072888 PMID:18341095 PMID:20051115 PMID:24033266 More... RGD:1600764 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:7825568 PMID:8037209 PMID:8880699 PMID:9389749 PMID:24033266 More... NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO DNA:missense mutation RGD PMID:12825073 RGD:1599893 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO glycogen storage disease IXa,OMIM:306000;DNA:point mutations,deletion,insertion
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7711737 PMID:7711737 RGD:1601388 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 IAGP
ISO		 DNA:missense mutation:cds:p.D215N (rat)
DNA:insertion, missense mutations:multiple (human)		 RGD PMID:8896567 PMID:8896567 RGD:737724, RGD:737724 NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO RGD PMID:15877279 RGD:1580717 NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Pygl glycogen phosphorylase L ISO RGD PMID:9536091 RGD:1599374 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO Fanconi-Bickel syndrome,OMIM:227810;DNA:point mutation:exon:p.R365X (human) RGD PMID:9354798 RGD:1624253 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Glycogen storage disease ClinVar PMID:9758626 PMID:9781688 PMID:10026167 PMID:10323254 PMID:10482962 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM ClinVar PMID:2111708 PMID:2203258 PMID:2510307 PMID:7668832 PMID:7717400 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19625727 PMID:22492991 More... NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
Danon disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
ISS
IMP		 ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy
OMIM:300257
CTD Direct Evidence: marker/mechanism
in hemizygote mutant male (LAMP2y/-)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 More... RGD:13703117 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023 		JBrowse link
Familial Cirrhosis with Deposition of Abnormal Glycogen 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: Cirrhosis, familial, with deposition of abnormal glycogen ClinVar PMID:2510307 PMID:7668832 PMID:7717400 PMID:7881425 PMID:8558570 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen ClinVar PMID:8059607 PMID:8247964 PMID:8613547 PMID:9536098 PMID:9851430 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
Glucose-6-Phosphate Translocase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate translocase deficiency ClinVar PMID:9781688 PMID:10508514 PMID:10940311 PMID:12444104 PMID:15906092 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
Glycogen Storage Disease 0, Liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gys2 glycogen synthase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypoglycemia with deficiency of glycogen synthetase in the liver | ClinVar Annotator: match by term: LIVER GLYCOGEN SYNTHASE DEFICIENCY		 OMIM
CTD
ClinVar		 PMID:106027 PMID:141912 PMID:8534634 PMID:9536098 PMID:9691087 More... NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228 		JBrowse link
Glycogen Storage Disease 0, Muscle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725 		JBrowse link
G Gys1 glycogen synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GSD 0b | ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency		 OMIM
CTD
ClinVar		 PMID:9267990 PMID:9389424 PMID:9536098 PMID:10102713 PMID:16199547 More... NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292 		JBrowse link
glycogen storage disease I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I		 CTD
ClinVar		 PMID:2172641 PMID:7525963 PMID:7573034 PMID:7623438 PMID:7655466 More... NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency ClinVar PMID:18425781 PMID:22252923 PMID:25741915 PMID:27629047 PMID:28492532 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 TAS
ISO		 ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I ClinVar
RGD		 PMID:9758626 PMID:10482962 PMID:10923042 PMID:10940311 PMID:12444104 More... RGD:61591 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
glycogen storage disease Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc1 glucose-6-phosphatase catalytic subunit 1 treatment ISO
ISS		 ClinVar Annotator: match by term: GSD Ia | ClinVar Annotator: match by term: Glycogen storage disease type 1A | ClinVar Annotator: match by term: Hepatorenal glycogenosis
OMIM:232200
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:727G>T (human)
human gene in a mouse model		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2172641 PMID:7525963 PMID:7573034 PMID:7623438 PMID:7655466 More... RGD:14695534, RGD:14695549, RGD:14695538 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Hepatorenal glycogenosis ClinVar PMID:18425781 PMID:22252923 PMID:25741915 PMID:27629047 PMID:28492532 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Hepatorenal form of glycogen storage disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISS
ISO		 OMIM:232200 | OMIM:232220 | OMIM:232240
ClinVar Annotator: match by term: Hepatorenal glycogenosis		 MouseDO
ClinVar		 PMID:20578944 PMID:25741868 PMID:28492532 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
glycogen storage disease Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611 		JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Glycogen storage disease Ib ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662 		JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO DNA:missense mutation:cds:p.G339C (human)
ClinVar Annotator: match by term: GSD Ib | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect | ClinVar Annotator: match by term: Glycogen storage disease Ib
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3728255 PMID:9428641 PMID:9536098 PMID:9598717 PMID:9675154 More... RGD:1599000 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389 		JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568 		JBrowse link
glycogen storage disease Ic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: GSD Ic
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3728255 PMID:9428641 PMID:9536098 PMID:9598717 PMID:9675154 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
glycogen storage disease II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:28492532 NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057 		JBrowse link
G Gaa alpha glucosidase ISO
ISS		 ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II
ClinVar Annotator: match by term: ACID ALPHA-GLUCOSIDASE DEFICIENCY | ClinVar Annotator: match by term: Glycogen storage disease type 2 | ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II
OMIM:232300
CTD Direct Evidence: marker/mechanism|therapeutic		 OMIM
ClinVar
MouseDO
CTD		 PMID:1109266 PMID:1652892 PMID:1856189 PMID:1862843 PMID:1895140 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:15016963 PMID:21266528 PMID:23334666 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		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
ISS		 DNA:missense mutations, frameshift mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Glycogen storage disease type III
OMIM:232400
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8702417 PMID:8755644 PMID:8990006 PMID:9332391 PMID:9412782 More... RGD:1601129, RGD:1331525 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Cori disease ClinVar PMID:11727201 PMID:12673792 PMID:12955720 PMID:16385454 PMID:16783378 More... NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		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:9536098 More... NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		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
RGD		 PMID:8755644 PMID:9490286 PMID:9536098 PMID:10655153 PMID:10801050 More... RGD:1566516 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		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 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		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 ClinVar Annotator: match by term: Glycogen storage disease, type IV ClinVar
RGD		 PMID:2510307 PMID:7668832 PMID:7717400 PMID:7881425 PMID:8558570 More... RGD:25671409 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO
ISS		 DNA:deletion,DNA:point mutations:Y329S,L224P,R515C,F257L,R524X
ClinVar Annotator: match by term: Glycogen storage disease, type IV
OMIM:232500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8059607 PMID:8247964 PMID:8613547 PMID:9536098 PMID:9851430 More... RGD:1601279 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:30792690 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		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 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005 		JBrowse link
glycogen storage disease IXA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,401,122...33,465,427 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP		 ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple
DNA:missense mutations:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 More... RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742 		JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
glycogen storage disease IXB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc12 ATP binding cassette subfamily C member 12 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:20,549,298...20,621,991
Ensembl chr19:20,549,405...20,620,734 		JBrowse link
G C19h16orf87 similar to human chromosome 16 open reading frame 87 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,626,390...21,653,869
Ensembl chr19:21,626,914...21,654,255 		JBrowse link
G Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,497,792...21,516,904
Ensembl chr19:21,497,729...21,516,901 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610 		JBrowse link
G Itfg1 integrin alpha FG-GAP repeat containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,210,697...21,331,285
Ensembl chr19:21,210,733...21,331,279 		JBrowse link
G Mylk3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,685,085...21,743,587
Ensembl chr19:21,691,929...21,742,954 		JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,344,299...21,415,524
Ensembl chr19:21,344,289...21,417,023 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662 		JBrowse link
G Phkb phosphorylase kinase regulatory subunit beta ISO
ISS		 ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
OMIM:261750
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 More... NCBI chr19:21,013,719...21,210,671
Ensembl chr19:21,025,733...21,210,633 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618 		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 term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 More... NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124 		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
ISS		 ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition
OMIM:300559
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd ClinVar PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 More... NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289 		JBrowse link
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119 		JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188 		JBrowse link
G Batf2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804 		JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824 		JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240 		JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897 		JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023 		JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541 		JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270 		JBrowse link
G Ehd1 EH-domain containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658 		JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367 		JBrowse link
G Fau FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445 		JBrowse link
G Gpha2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISS OMIM:232600 MouseDO NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Majin membrane anchored junction protein ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092 		JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652 		JBrowse link
G Map4k2 mitogen activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Mir192 microRNA 192 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055 		JBrowse link
G Mir194-2 microRNA 194-2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845 		JBrowse link
G mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756 		JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724 		JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561 		JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857 		JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348 		JBrowse link
G Ppp2r5b protein phosphatase 2, regulatory subunit B', beta ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO
ISS		 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 term: Myophosphorylase deficiency
OMIM:232600
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1067063 PMID:2391551 PMID:2703328 PMID:3476861 PMID:7951211 More... RGD:1599985 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368 		JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
Ensembl chr  X:202,405,759...202,413,868 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516 		JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604 		JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591 		JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171 		JBrowse link
G Snx15 sorting nexin 15 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247 		JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743 		JBrowse link
G Syvn1 synoviolin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798 		JBrowse link
G Vps51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430 		JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427 		JBrowse link
G Zfpl1 zinc finger protein-like 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487 		JBrowse link
G Znhit2 zinc finger, HIT-type containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636 		JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465 		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
ISS
IAGP		 ClinVar Annotator: match by term: Glycogen storage disease, type VI | ClinVar Annotator: match by term: Hepatic glycogen phosphorylase deficiency | ClinVar Annotator: match by term: Hers disease | ClinVar Annotator: match by term: Phosphorylase deficiency glycogen-storage disease of liver
OMIM:232700
DNA:SNPs,insertions,deletions:exons,introns:multiple
DNA:mutation:multiple
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9529348 PMID:9536091 PMID:9536098 PMID:12809646 PMID:16199547 More... RGD:21079734, RGD:11071447 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO
ISS		 OMIM:232800
ClinVar Annotator: match by term: Glycogen storage disease, type VII | ClinVar Annotator: match by term: Tarui disease
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:1833270 PMID:2140573 PMID:7479776 PMID:7513946 PMID:7603526 More... RGD:1599108 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
glycogen storage disease VIII 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 ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver ClinVar PMID:7711737 PMID:9536098 PMID:10330341 PMID:16199547 PMID:17576681 More... NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
Glycogen Storage Disease XI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf2h1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A ClinVar PMID:28492532 NCBI chr 1:97,321,417...97,349,455
Ensembl chr 1:97,321,394...97,349,455 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A ClinVar PMID:28492532 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019 		JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Glycogen storage disease XI | ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1953713 PMID:1959923 PMID:2334430 PMID:3092644 PMID:7603529 More... NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency		 OMIM
CTD
ClinVar		 PMID:2825199 PMID:8598869 PMID:9536098 PMID:14615364 PMID:16199547 More... NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:2825199 PMID:8598869 PMID:9536098 PMID:14615364 PMID:16199547 More... NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,622,698...181,625,024 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472 		JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Red cell aldolase deficiency ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Enolase 3 deficiency | ClinVar Annotator: match by term: Enolase-beta deficiency		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11506403 PMID:16199547 PMID:17576681 PMID:18070103 More... NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921 		JBrowse link
glycogen storage disease XV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Ankub1 ankyrin repeat and ubiquitin domain containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:141,857,623...141,894,624
Ensembl chr 2:141,856,573...141,894,339 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Commd2 COMM domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:141,848,661...141,852,907
Ensembl chr 2:141,848,680...141,852,888 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Cpa3 carboxypeptidase A3 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:102,712,483...102,744,219
Ensembl chr 2:102,712,589...102,744,203 		JBrowse link
G Cpb1 carboxypeptidase B1 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:102,755,241...102,785,628
Ensembl chr 2:102,755,241...102,785,628 		JBrowse link
G Eif2a eukaryotic translation initiation factor 2A ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:142,761,303...142,794,767
Ensembl chr 2:142,761,416...142,795,068 		JBrowse link
G Erich6 glutamate-rich 6 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:142,851,905...142,878,010
Ensembl chr 2:142,851,905...142,884,320 		JBrowse link
G Gpr171 G protein-coupled receptor 171 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:143,360,402...143,365,494
Ensembl chr 2:143,359,564...143,366,698 		JBrowse link
G Gpr87 G protein-coupled receptor 87 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:143,439,741...143,440,901
Ensembl chr 2:143,439,735...143,458,190 		JBrowse link
G Gyg1 glycogenin 1 ISO
ISS		 ClinVar Annotator: match by term: Glycogen storage disease XV
OMIM:613507
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20357282 PMID:22198226 More... NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797 		JBrowse link
G Hltf helicase-like transcription factor ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:102,549,724...102,609,492
Ensembl chr 2:102,549,724...102,609,327 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
G Igsf10 immunoglobulin superfamily, member 10 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773 		JBrowse link
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741 		JBrowse link
G Mindy4b MINDY family member 4B ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:143,026,685...143,061,966
Ensembl chr 2:143,027,285...143,058,144 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361 		JBrowse link
G P2ry13 purinergic receptor P2Y13 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:143,470,437...143,476,360
Ensembl chr 2:143,470,425...143,473,434 		JBrowse link
G P2ry14 purinergic receptor P2Y14 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:143,372,697...143,413,213
Ensembl chr 2:143,372,697...143,413,141 		JBrowse link
G Pfn2 profilin 2 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:142,067,102...142,072,938
Ensembl chr 2:142,067,104...142,072,938 		JBrowse link
G Rnf13 ring finger protein 13 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:141,927,887...142,061,801
Ensembl chr 2:141,927,909...142,061,801 		JBrowse link
G Selenot selenoprotein T ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:142,804,387...142,821,438
Ensembl chr 2:142,804,405...142,821,427 		JBrowse link
G Serp1 stress-associated endoplasmic reticulum protein 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:142,757,254...142,761,243
Ensembl chr 2:142,757,270...142,761,116 		JBrowse link
G Siah2 siah E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:142,913,924...142,931,752
Ensembl chr 2:142,914,003...142,931,950 		JBrowse link
G Tm4sf1 transmembrane 4 L six family member 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:141,456,950...141,466,146
Ensembl chr 2:141,453,310...141,466,146 		JBrowse link
G Tm4sf4 transmembrane 4 L six family member 4 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:141,570,321...141,621,263
Ensembl chr 2:141,481,902...141,621,200 		JBrowse link
G Tsc22d2 TSC22 domain family, member 2 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:142,646,778...142,697,977
Ensembl chr 2:142,644,744...142,693,606 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XV ClinVar PMID:20357282 PMID:25272951 PMID:28492532 NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968 		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:8059607 PMID:8247964 PMID:8613547 PMID:9536098 PMID:9851430 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		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:20301758 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		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:20058079 PMID:25525159 PMID:25741868 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		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:9536098 PMID:15019703 PMID:15452297 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		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
ClinVar Annotator: match by term: Gsd IV, neuromuscular form, fatal perinatal		 ClinVar
RGD		 PMID:8247964 PMID:10384399 PMID:15452297 PMID:16199547 PMID:20058079 More... RGD:18337290 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		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 Abcb8 ATP binding cassette subfamily B member 8 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,766,206...10,783,598
Ensembl chr 4:10,768,281...10,783,589 		JBrowse link
G Abcf2 ATP binding cassette subfamily F member 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,594,802...10,607,620
Ensembl chr 4:10,594,907...10,607,606 		JBrowse link
G Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,674,746...10,724,848
Ensembl chr 4:10,674,064...10,725,244 		JBrowse link
G Asb10 ankyrin repeat and SOCS box-containing 10 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,630,318...10,644,270
Ensembl chr 4:10,630,448...10,639,060 		JBrowse link
G Asic3 acid sensing ion channel subunit 3 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,760,509...10,764,987
Ensembl chr 4:10,760,597...10,764,643 		JBrowse link
G Atg9b autophagy related 9B ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,784,934...10,793,832
Ensembl chr 4:10,786,114...10,793,651 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
G Chpf2 chondroitin polymerizing factor 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,578,470...10,585,940
Ensembl chr 4:10,580,462...10,585,916 		JBrowse link
G Crygn crystallin, gamma N ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,394,015...10,401,542
Ensembl chr 4:10,394,020...10,401,543 		JBrowse link
G Fastk Fas-activated serine/threonine kinase ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,732,273...10,736,332
Ensembl chr 4:10,732,256...10,737,430 		JBrowse link
G Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:18348270 PMID:25606385 PMID:28492532 NCBI chr 4:9,837,629...9,871,141
Ensembl chr 4:9,837,629...9,871,140 		JBrowse link
G Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:18348270 PMID:25606385 PMID:28492532 NCBI chr 4:9,873,426...9,923,297
Ensembl chr 4:9,873,428...9,923,136 		JBrowse link
G Gbx1 gastrulation brain homeobox 1 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,645,957...10,672,486
Ensembl chr 4:10,645,957...10,672,486 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:18348270 PMID:25606385 PMID:28492532 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Mir671 microRNA 671 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,580,747...10,580,827
Ensembl chr 4:10,580,738...10,580,835 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nub1 negative regulator of ubiquitin-like proteins 1 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,442,917...10,473,689
Ensembl chr 4:10,442,917...10,473,694 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:762819 PMID:2526523 PMID:9536098 PMID:10355918 PMID:10368461 More... NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,548,693...10,580,334
Ensembl chr 4:10,548,751...10,580,326 		JBrowse link
G Tmub1 transmembrane and ubiquitin-like domain containing 1 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,729,494...10,732,060
Ensembl chr 4:10,729,250...10,732,060 		JBrowse link
G Wdr86 WD repeat domain 86 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:28492532 NCBI chr 4:10,423,496...10,443,473
Ensembl chr 4:10,424,008...10,441,465 		JBrowse link
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart ClinVar PMID:18348270 PMID:25606385 PMID:28492532 NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482 		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: Adult polyglucosan body disease | ClinVar Annotator: match by term: Adult polyglucosan body neuropathy | ClinVar Annotator: match by term: Polyglucosan body disease, adult form
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8613547 PMID:9536098 PMID:9851430 PMID:10545044 PMID:10762170 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		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 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696 		JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 without immunodeficiency OMIM
ClinVar		 PMID:2379848 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18691923 More... NCBI chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005 		JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915 		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 3:140,581,336...140,595,273
Ensembl chr 3:140,581,593...140,593,299 		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 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096 		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 3:140,604,490...140,610,050
Ensembl chr 3:140,599,608...140,628,448 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		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 3:140,638,984...140,644,766
Ensembl chr 3:140,638,984...140,644,766 		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 term: Polyglucosan body myopathy type 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20357282 PMID:24033266 More... NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          carbohydrate metabolic disorder 3265
            glycogen metabolism disorder 264
              glycogen storage disease 264
                Danon disease 13
                Glycogen Storage Disease 0, Liver 1
                Glycogen Storage Disease 0, Muscle 2
                Glycogen Storage Disease XI 3
                Glycogen Storage Disease XII 24
                Glycogen Storage Disease XIII 1
                Polyglucosan Body Disease, Adult Form 1
                Polyglucosan Body Myopathy 1 with or without Immunodeficiency 8
                Polyglucosan Body Myopathy 2 1
                congenital disorder of glycosylation It 1
                glycogen storage disease I + 36
                glycogen storage disease II + 5
                glycogen storage disease III + 2
                glycogen storage disease IV + 4
                glycogen storage disease IX + 29
                glycogen storage disease V 82
                glycogen storage disease VI 1
                glycogen storage disease VII 2
                glycogen storage disease VIII 1
                glycogen storage disease XV 29
                lethal congenital glycogen storage disease of heart 25
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            carbohydrate metabolic disorder 3265
              glycogen metabolism disorder 264
                glycogen storage disease 264
                  Danon disease 13
                  Glycogen Storage Disease 0, Liver 1
                  Glycogen Storage Disease 0, Muscle 2
                  Glycogen Storage Disease XI 3
                  Glycogen Storage Disease XII 24
                  Glycogen Storage Disease XIII 1
                  Polyglucosan Body Disease, Adult Form 1
                  Polyglucosan Body Myopathy 1 with or without Immunodeficiency 8
                  Polyglucosan Body Myopathy 2 1
                  congenital disorder of glycosylation It 1
                  glycogen storage disease I + 36
                  glycogen storage disease II + 5
                  glycogen storage disease III + 2
                  glycogen storage disease IV + 4
                  glycogen storage disease IX + 29
                  glycogen storage disease V 82
                  glycogen storage disease VI 1
                  glycogen storage disease VII 2
                  glycogen storage disease VIII 1
                  glycogen storage disease XV 29
                  lethal congenital glycogen storage disease of heart 25
paths to the root