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 Ib
Accession: DOID:0081330
browse the term
Definition: A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. (DO)
Synonyms: exact_synonym: GSD Ib; GSD1B; glucose-6-phosphate transport defect; glycogen storage disease type IB
primary_id: MESH:C562594
alt_id: DOID:9000306; OMIM:232220
xref: NCI:C122661
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ift46
intraflagellar transport 46
ISO
ClinVar Annotator: match by term: Glucose-6-phosphate transport defect
ClinVar
PMID:28492532
NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Slc37a4
solute carrier family 37 member 4
ISO
DNA:missense mutation:cds:p.G339C (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GSD Ib | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect
OMIM CTD ClinVar RGD
PMID:3728255 PMID:9428641 PMID:9536098 PMID:9598717 PMID:9675154 PMID:9758626 PMID:9781688 PMID:9856496 PMID:10026167 PMID:10323254 PMID:10482875 PMID:10482962 PMID:10508514 PMID:10518030 PMID:10874322 PMID:10923042 PMID:10931421 PMID:10940311 PMID:11071391 PMID:11949931 PMID:12373566 PMID:12409273 PMID:12444104 PMID:15059622 PMID:15260472 PMID:15669677 PMID:15757503 PMID:15906092 PMID:15953877 PMID:16199547 PMID:16435186 PMID:16490377 PMID:16716283 PMID:17307551 PMID:17576681 PMID:17994282 PMID:18337460 PMID:18437526 PMID:18835800 PMID:18996862 PMID:19454374 PMID:19579760 PMID:20301489 PMID:20386986 PMID:20578944 PMID:21575371 PMID:21629566 PMID:21659346 PMID:21983240 PMID:22899091 PMID:23810759 PMID:24033266 PMID:24385852 PMID:24565827 PMID:24646511 PMID:24745989 PMID:25308557 PMID:25741868 PMID:25881301 PMID:25982172 PMID:26913919 PMID:27066451 PMID:27848944 PMID:28224733 PMID:28224773 PMID:28394482 PMID:28492532 PMID:28685844 PMID:29119402 PMID:29549044 PMID:29581464 PMID:30290665 PMID:30951856 PMID:30956637 PMID:31508908 PMID:31617422 PMID:32300528 PMID:32374048 PMID:32772503 PMID:32884905 PMID:33083013 PMID:33728255 PMID:33731098 PMID:33964207 PMID:33977030 PMID:35834487 PMID:9428641 More...
RGD:1599000
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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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
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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
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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
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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
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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
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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
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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
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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
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