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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 V
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Accession:DOID:2746 term browser browse the term
Definition:A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. (DO)
Synonyms:exact_synonym: GSD V;   GSD5;   Glycogen Storage Disease Type 5;   Glycogen storage disease 5;   McArdle Disease;   McArdle Type Glycogen Storage Disease;   McArdle syndromes;   McArdle's Disease;   McArdles Disease;   Mcardle Syndrome;   Muscle Glycogen Phosphorylase Deficiency;   Muscle Phosphorylase Deficiency;   Myophosphorylase deficiencies;   PYGM deficiencies;   PYGM deficiency;   glycogen storage disease type V;   glycogenosis 5;   muscle phosphorylase deficiencies;   myophosphorylase deficiency
 narrow_synonym: MCARDLE DISEASE, MILD
 primary_id: MESH:D006012
 alt_id: MIM:232600
 xref: GARD:6528;   ICD10CM:E74.04;   NCI:C84738;   ORDO:368
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
glycogen storage disease V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936599:3,750,553...3,753,601
Ensembl chrNW_004936599:3,750,512...3,754,291 		JBrowse link
G Arl2 ARF 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 chrNW_004936599:4,336,190...4,343,007
Ensembl chrNW_004936599:4,336,079...4,343,061 		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 chrNW_004936599:4,417,810...4,437,639
Ensembl chrNW_004936599:4,417,900...4,437,178 		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 chrNW_004936599:3,257,329...3,259,614
Ensembl chrNW_004936599:3,257,329...3,259,719 		JBrowse link
G Banf1 barrier to autointegration 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 chrNW_004936599:3,553,190...3,555,167
Ensembl chrNW_004936599:3,553,193...3,555,162 		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 chrNW_004936599:4,352,270...4,358,658
Ensembl chrNW_004936599:4,352,199...4,358,662 		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 chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299 		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 chrNW_004936599:3,259,868...3,267,172
Ensembl chrNW_004936599:3,259,835...3,267,676 		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 chrNW_004936599:4,178,963...4,201,037
Ensembl chrNW_004936599:4,178,901...4,201,052 		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 chrNW_004936599:3,529,621...3,538,291 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 chrNW_004936599:3,649,372...3,650,408
Ensembl chrNW_004936599:3,649,613...3,650,221 		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 chrNW_004936599:3,284,695...3,287,022 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 chrNW_004936599:4,481,774...4,498,247
Ensembl chrNW_004936599:4,482,174...4,497,167 		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 chrNW_004936599:4,285,007...4,291,875
Ensembl chrNW_004936599:4,284,958...4,291,874 		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 chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307 		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 chrNW_004936599:3,310,873...3,316,575
Ensembl chrNW_004936599:3,310,872...3,316,573 		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 chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418 		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 chrNW_004936599:3,657,255...3,661,007
Ensembl chrNW_004936599:3,657,453...3,660,922 		JBrowse link
G CUNH11orf68 chromosome unknown C11orf68 homolog ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chrNW_004936599:3,624,401...3,626,237
Ensembl chrNW_004936599:3,624,428...3,626,237 		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 chrNW_004936599:4,063,030...4,078,159
Ensembl chrNW_004936599:4,062,764...4,078,228 		JBrowse link
G Dpp3 dipeptidyl peptidase 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 chrNW_004936599:3,076,909...3,098,012
Ensembl chrNW_004936599:3,076,909...3,097,785 		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 chrNW_004936599:3,621,549...3,622,824
Ensembl chrNW_004936599:3,621,423...3,622,874 		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 chrNW_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047 		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 chrNW_004936599:3,867,185...3,882,712
Ensembl chrNW_004936599:3,867,005...3,882,732 		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 chrNW_004936599:4,451,207...4,473,078
Ensembl chrNW_004936599:4,450,188...4,473,738 		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 chrNW_004936599:3,555,273...3,558,443
Ensembl chrNW_004936599:3,555,273...3,562,842 		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 chrNW_004936599:4,246,681...4,248,142
Ensembl chrNW_004936599:4,246,676...4,248,141 		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 chrNW_004936599:3,652,889...3,657,171
Ensembl chrNW_004936599:3,652,839...3,660,645 		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 chrNW_004936599:3,642,504...3,649,294
Ensembl chrNW_004936599:3,642,504...3,648,417 		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 chrNW_004936599:4,019,651...4,033,352
Ensembl chrNW_004936599:4,014,355...4,032,866 		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 chrNW_004936599:3,498,011...3,512,550
Ensembl chrNW_004936599:3,498,005...3,504,901 		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 chrNW_004936599:4,401,554...4,403,110
Ensembl chrNW_004936599:4,398,754...4,407,496 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO OMIM:232600 MouseDO NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		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 chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128 		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 chrNW_004936599:3,864,110...3,866,998
Ensembl chrNW_004936599:3,864,097...3,866,994 		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 chrNW_004936599:3,325,013...3,334,366
Ensembl chrNW_004936599:3,325,015...3,334,434 		JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12666117 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		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 chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471 		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 chrNW_004936599:4,382,751...4,400,400
Ensembl chrNW_004936599:4,382,761...4,399,572 		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 chrNW_004936599:3,847,637...3,862,895
Ensembl chrNW_004936599:3,848,334...3,863,005 		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 chrNW_004936599:4,511,348...4,526,284
Ensembl chrNW_004936599:4,511,310...4,527,036 		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 chrNW_004936599:4,504,489...4,510,085
Ensembl chrNW_004936599:4,504,397...4,510,555 		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 chrNW_004936599:3,134,791...3,136,470
Ensembl chrNW_004936599:3,134,607...3,137,448 		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 chrNW_004936599:4,243,310...4,246,546
Ensembl chrNW_004936599:4,243,368...4,246,522 		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 chrNW_004936599:3,670,759...3,677,375
Ensembl chrNW_004936599:3,670,862...3,677,239 		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 chrNW_004936599:4,305,669...4,316,443
Ensembl chrNW_004936599:4,305,669...4,316,035 		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 chrNW_004936599:3,144,829...3,150,307
Ensembl chrNW_004936599:3,144,793...3,150,377 		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 chrNW_004936599:3,732,335...3,742,749
Ensembl chrNW_004936599:3,731,083...3,742,770 		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 chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671 		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 chrNW_004936599:3,825,376...3,847,592
Ensembl chrNW_004936599:3,825,376...3,847,283 		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 chrNW_004936599:3,099,256...3,110,566
Ensembl chrNW_004936599:3,099,256...3,110,565 		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 chrNW_004936599:4,105,365...4,132,079
Ensembl chrNW_004936599:4,105,301...4,132,054 		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 chrNW_004936599:4,403,107...4,411,407
Ensembl chrNW_004936599:4,401,557...4,411,391 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO 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
ClinVar		 PMID:1067063 PMID:2391551 PMID:2703328 PMID:3476861 PMID:7951211 More... NCBI chrNW_004936599:4,551,164...4,564,109
Ensembl chrNW_004936599:4,551,032...4,564,154 		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 chrNW_004936599:3,317,258...3,324,208
Ensembl chrNW_004936599:3,317,258...3,324,213 		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 chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813 		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 chrNW_004936599:3,267,223...3,274,359
Ensembl chrNW_004936599:3,268,122...3,272,444 		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 chrNW_004936599:3,766,330...3,767,453
Ensembl chrNW_004936599:3,766,242...3,767,345 		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 chrNW_004936599:4,316,488...4,319,700
Ensembl chrNW_004936599:4,313,222...4,319,394 		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 chrNW_004936599:3,577,552...3,588,825
Ensembl chrNW_004936599:3,577,480...3,588,706 		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 chrNW_004936599:3,918,325...3,928,415
Ensembl chrNW_004936599:3,918,469...3,928,421 		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 chrNW_004936599:4,533,664...4,546,857
Ensembl chrNW_004936599:4,533,795...4,546,853 		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 chrNW_004936599:3,477,882...3,494,366
Ensembl chrNW_004936599:3,477,589...3,494,354 		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 chrNW_004936599:3,813,350...3,825,319
Ensembl chrNW_004936599:3,813,596...3,822,170 		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 chrNW_004936599:4,038,080...4,043,268
Ensembl chrNW_004936599:4,037,880...4,043,266 		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 chrNW_004936599:3,210,463...3,221,012
Ensembl chrNW_004936599:3,211,939...3,223,348 		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 chrNW_004936599:4,320,092...4,332,386
Ensembl chrNW_004936599:4,319,761...4,332,500 		JBrowse link
G Spdyc speedy/RINGO cell cycle regulator family member C ISO ClinVar Annotator: match by term: Glycogen storage disease, type V ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More...
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 chrNW_004936599:4,235,779...4,243,395
Ensembl chrNW_004936599:4,236,188...4,243,394 		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 chrNW_004936599:4,058,345...4,061,157
Ensembl chrNW_004936599:4,058,692...4,060,107 		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 chrNW_004936599:4,253,725...4,258,198
Ensembl chrNW_004936599:4,253,735...4,258,071 		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 chrNW_004936599:3,298,799...3,303,912
Ensembl chrNW_004936599:3,297,694...3,303,938 		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 chrNW_004936599:3,589,017...3,600,067 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 chrNW_004936599:4,258,239...4,274,823
Ensembl chrNW_004936599:4,258,239...4,274,831 		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 chrNW_004936599:3,305,946...3,310,498
Ensembl chrNW_004936599:3,305,925...3,310,836 		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 chrNW_004936599:4,280,871...4,284,871
Ensembl chrNW_004936599:4,278,553...4,284,915 		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 chrNW_004936599:4,252,338...4,253,654
Ensembl chrNW_004936599:4,252,375...4,253,532 		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 chrNW_004936599:3,886,898...3,888,642
Ensembl chrNW_004936599:3,886,892...3,888,866 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14573
    Developmental Disease 12732
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11937
        genetic disease 11654
          monogenic disease 9921
            autosomal genetic disease 9219
              autosomal recessive disease 6513
                glycogen storage disease V 78
Path 2
Term Annotations click to browse term
  disease 14573
    Developmental Disease 12732
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11937
        genetic disease 11654
          inherited metabolic disorder 5583
            carbohydrate metabolic disorder 2694
              glycogen metabolism disorder 288
                glycogen storage disease 288
                  glycogen storage disease V 78
paths to the root