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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;   Glycogenosis 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;   Myophosphorylase deficiency;   PYGM deficiencies;   PYGM deficiency;   glycogen storage disease type V;   muscle phosphorylase deficiencies
 narrow_synonym: MCARDLE DISEASE, MILD
 primary_id: MESH:D006012
 alt_id: OMIM:232600
 xref: GARD:6528;   ICD10CM:E74.04;   NCI:C84738;   ORDO:368
For additional species annotation, visit the Alliance of Genome Resources.



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glycogen storage disease V term browser
Symbol Object Name 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 NCBI chr 1:202,763,645...202,764,631
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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 NCBI chr 1:202,593,692...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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 NCBI chr 1:203,645,098...203,660,515
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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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 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
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:831628 PMID:1067063 PMID:2244438 PMID:2391551 PMID:2703328 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:16786513 PMID:28492532 NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 NCBI chr 1:202,894,504...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:16786513 PMID:28492532 NCBI chr 1:203,414,181...203,416,619
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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 NCBI chr 1:202,387,397...202,392,243
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:16786513 PMID:28492532 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:16786513 PMID:28492532 NCBI chr 1:203,360,434...203,370,295
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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 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:16786513 PMID:28492532 NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                glycogen storage disease V 82
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2567
              glycogen metabolism disorder 248
                glycogen storage disease 248
                  glycogen storage disease V 82
paths to the root