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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 I
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Accession:DOID:2749 term browser browse the term
Definition:A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. (DO)
Synonyms:exact_synonym: Gierke disease;   Gierke's disease;   Gierkes disease;   Glucose 6 Phosphatase Deficiency;   Glucose-6-Phosphatase Deficiencies;   Glucosephosphatase Deficiencies;   Glucosephosphatase Deficiency;   Glycogenosis 1;   deficiency of glucose-6-phosphatase;   glycogen storage disease 1 (GSD I);   glycogen storage disease type I;   glycogenosis type I;   hepatorenal glycogen storage disease;   von Gierke Disease;   von Gierke's Disease;   von Gierkes disease
 primary_id: MESH:D005953
 xref: ICD10CM:E74.01;   NCI:C84733
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency
ClinVar Annotator: match by term: Glycogen storage disease, type I
CTD
ClinVar
PMID:2172641, PMID:7525963, PMID:7573034, PMID:7623438, PMID:7655466, PMID:7668282, PMID:7744838, PMID:7814621, PMID:8163185, PMID:8182131, PMID:8211187, PMID:8733042, PMID:8734807, PMID:9001800, PMID:9332655, PMID:9359038, PMID:9506659, PMID:9630072, PMID:9700612, PMID:9705299, PMID:10070617, PMID:10094563, PMID:10234610, PMID:10322403, PMID:10447271, PMID:10604148, PMID:10612834, PMID:10738525, PMID:10748407, PMID:10797430, PMID:10834516, PMID:10874313, PMID:10944847, PMID:10960498, PMID:11058903, PMID:11058910, PMID:11161844, PMID:11310582, PMID:11386847, PMID:11596659, PMID:11739393, PMID:11916325, PMID:11949931, PMID:12093795, PMID:12373566, PMID:12713862, PMID:15151508, PMID:15316959, PMID:15455297, PMID:15542400, PMID:15918042, PMID:16435186, PMID:17607665, PMID:17994282, PMID:18008183, PMID:18083610, PMID:18449899, PMID:19541498, PMID:19762333, PMID:19815695, PMID:20301489, PMID:20509832, PMID:20532819, PMID:21599942, PMID:21983240, PMID:22909800, PMID:23000067, PMID:23046672, PMID:23312056, PMID:23352793, PMID:23486339, PMID:24033266, PMID:24082139, PMID:24385852, PMID:24565827, PMID:24980439, PMID:25308557, PMID:25333069, PMID:25741868, PMID:27511118, PMID:28360385, PMID:28397058, PMID:28492532, PMID:28659124, PMID:29374762, PMID:30279644, PMID:30311386, PMID:30956637, PMID:32313153 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Slc37a4 solute carrier family 37 member 4 TAS
ISO
ISS
ClinVar Annotator: match by term: Glycogen storage disease, type I
OMIM:232200 | OMIM:232220 | OMIM:232240
ClinVar
MouseDO
PMID:9758626, PMID:10482962, PMID:10923042, PMID:10940311, PMID:12444104, PMID:15669677, PMID:15757503, PMID:17994282, PMID:22899091, PMID:25741868, PMID:26913919, PMID:28492532, PMID:28685844, PMID:30311386, PMID:9822626 RGD:61591 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
Glycogen Storage Disease IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc1 glucose-6-phosphatase catalytic subunit 1 treatment ISO ClinVar Annotator: match by term: Hepatorenal glycogenosis
ClinVar Annotator: match by term: GSD Ia
ClinVar Annotator: match by term: Glycogen storage disease type 1A
DNA:SNP:exon:727G>T (human)
human gene in a mouse model
ClinVar Annotator: match by OMIM:232200
OMIM
ClinVar
PMID:2172641, PMID:7525963, PMID:7573034, PMID:7623438, PMID:7655466, PMID:7668282, PMID:7744838, PMID:7814621, PMID:8163185, PMID:8182131, PMID:8211187, PMID:8733042, PMID:8734807, PMID:9001800, PMID:9332655, PMID:9359038, PMID:9506659, PMID:9630072, PMID:9700612, PMID:9705299, PMID:10070617, PMID:10094563, PMID:10234610, PMID:10322403, PMID:10447271, PMID:10604148, PMID:10612834, PMID:10738525, PMID:10748407, PMID:10797430, PMID:10834516, PMID:10874313, PMID:10944847, PMID:10960498, PMID:11058903, PMID:11058910, PMID:11161844, PMID:11310582, PMID:11386847, PMID:11596659, PMID:11739393, PMID:11916325, PMID:11949931, PMID:12093795, PMID:12373566, PMID:12713862, PMID:15151508, PMID:15316959, PMID:15455297, PMID:15542400, PMID:15918042, PMID:16435186, PMID:17607665, PMID:17994282, PMID:18008183, PMID:18083610, PMID:18449899, PMID:19541498, PMID:19762333, PMID:19815695, PMID:20301489, PMID:20509832, PMID:20532819, PMID:21599942, PMID:21983240, PMID:22909800, PMID:23000067, PMID:23046672, PMID:23312056, PMID:23352793, PMID:23486339, PMID:24033266, PMID:24082139, PMID:24385852, PMID:24565827, PMID:24980439, PMID:25308557, PMID:25333069, PMID:25741868, PMID:27511118, PMID:28360385, PMID:28397058, PMID:28492532, PMID:28659124, PMID:29374762, PMID:30279644, PMID:30311386, PMID:30956637, PMID:32313153, PMID:11851840, PMID:20389290, PMID:24717294 RGD:14695549, RGD:14695538, RGD:14695534 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
Glycogen Storage Disease IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,220,441...49,227,273
Ensembl chr 8:49,220,443...49,227,273
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,805,684...48,835,794
Ensembl chr 8:48,805,684...48,834,312
JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,297,604...49,309,370
Ensembl chr 8:49,297,608...49,308,806
JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,274,553...49,280,943
Ensembl chr 8:49,274,960...49,280,901
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,729,695...48,736,574
Ensembl chr 8:48,729,835...48,736,506
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,835,688...48,852,032
Ensembl chr 8:48,836,957...48,850,671
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,924,768...48,961,394
Ensembl chr 8:48,925,604...48,958,026
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,754,300...48,762,765
Ensembl chr 8:48,754,736...48,762,342
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,075,978...49,097,689
Ensembl chr 8:49,077,053...49,097,686
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,378,644...49,408,894
Ensembl chr 8:49,378,644...49,410,088
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,342,067...49,353,080
Ensembl chr 8:49,342,067...49,353,080
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,354,257...49,374,444
Ensembl chr 8:49,354,115...49,376,687
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,997,189...49,045,176
Ensembl chr 8:48,997,184...49,045,154
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,727,346...48,729,722
Ensembl chr 8:48,727,618...48,729,580
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO DNA:missense mutation:cds:p.G339C (human)
ClinVar Annotator: match by term: Glucose-6-phosphate transport defect
ClinVar Annotator: match by term: GSD Ib
ClinVar Annotator: match by OMIM:232220
ClinVar
OMIM
PMID:9428641, PMID:9675154, PMID:9758626, PMID:10026167, PMID:10323254, PMID:10482875, PMID:10482962, PMID:10518030, PMID:10874322, PMID:10923042, PMID:10931421, PMID:10940311, PMID:11071391, PMID:11949931, PMID:12373566, PMID:12373567, PMID:12409273, PMID:12444104, PMID:15059622, PMID:15260472, PMID:15669677, PMID:15757503, PMID:15906092, PMID:15953877, PMID:17307551, PMID:17994282, PMID:18337460, PMID:18437526, PMID:18835800, PMID:18996862, PMID:19454374, PMID:20386986, PMID:20578944, PMID:21575371, PMID:21983240, PMID:22899091, PMID:24033266, PMID:24385852, PMID:24565827, PMID:24646511, PMID:24745989, PMID:25288127, PMID:25741868, PMID:25982172, PMID:26913919, PMID:27066451, PMID:28224773, PMID:28492532, PMID:28685844, PMID:29119402, PMID:29146883, PMID:29581464, PMID:30311386, PMID:31508908, PMID:31617422, PMID:9428641 RGD:1599000 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,100,759...49,106,258
Ensembl chr 8:49,100,759...49,106,177
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,469,804...49,503,304
Ensembl chr 8:49,469,503...49,502,647
JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,723,755...48,727,182
Ensembl chr 8:48,723,191...48,727,154
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,983,802...48,998,072
Ensembl chr 8:48,983,802...48,997,191
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,106,374...49,109,981
Ensembl chr 8:49,106,374...49,109,981
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:49,229,713...49,271,894
Ensembl chr 8:49,229,717...49,271,834
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,772,906...48,774,898
Ensembl chr 8:48,772,906...48,774,898
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Glucose-6-phosphate transport defect ClinVar PMID:28492532 NCBI chr 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295
JBrowse link
Glycogen Storage Disease IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by OMIM:232240
ClinVar Annotator: match by term: GSD Ic
OMIM
ClinVar
PMID:9598717, PMID:9675154, PMID:9758626, PMID:10026167, PMID:10323254, PMID:10482962, PMID:10923042, PMID:10940311, PMID:11071391, PMID:12373567, PMID:15757503, PMID:15953877, PMID:22899091, PMID:24033266, PMID:24646511, PMID:25288127, PMID:25741868, PMID:26913919, PMID:28224773, PMID:28492532 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            glycogen metabolism disorder 79
              glycogen storage disease 79
                glycogen storage disease I 34
                  Glucose-6-Phosphate Translocase Deficiency 0
                  Glycogen Storage Disease IA 1
                  Glycogen Storage Disease IB 33
                  Glycogen Storage Disease IC 1
                  Glycogen Storage Disease ID 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  glycogen storage disease I 34
                    Glucose-6-Phosphate Translocase Deficiency 0
                    Glycogen Storage Disease IA 1
                    Glycogen Storage Disease IB 33
                    Glycogen Storage Disease IC 1
                    Glycogen Storage Disease ID 0
paths to the root

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