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Fanconi-Bickel syndrome - Ontology Report - Rat Genome Database

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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:Fanconi-Bickel syndrome
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Accession:DOID:0070562 term browser browse the term
Definition:A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. (DO)
Synonyms:exact_synonym: FBS;   Fanconi Type Glycogenosis;   glycogenosis type XI
 related_synonym: glycogen storage disease XI
 xref: GARD:2268;   MIM:227810;   NCI:C168998;   ORDO:2088

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Fanconi-Bickel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt3 actin-related protein T3 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,799,038...112,801,065
Ensembl chr 2:112,799,011...112,801,075 		JBrowse link
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,136,234...114,149,539
Ensembl chr 2:112,207,745...112,221,050 		JBrowse link
G Ect2 epithelial cell transforming 2 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:111,904,522...111,966,786
Ensembl chr 2:109,975,813...110,037,911 		JBrowse link
G Eif5a2 eukaryotic translation initiation factor 5A2 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:113,656,748...113,674,598
Ensembl chr 2:111,729,323...111,746,087 		JBrowse link
G Fndc3b fibronectin type III domain containing 3B ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,240,108...112,546,113
Ensembl chr 2:110,312,694...110,547,830 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,196,158...112,201,666
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Gpr160 G protein-coupled receptor 160 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,414,084...114,491,590
Ensembl chr 2:112,484,935...112,563,148 		JBrowse link
G Gtf2h1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XI ClinVar PMID:28492532 NCBI chr 1:106,457,692...106,485,729
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: Glycogen storage disease XI ClinVar PMID:28492532 NCBI chr 1:106,417,902...106,457,220
Ensembl chr 1:97,247,598...97,321,019 		JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI ClinVar PMID:1953713 PMID:1959923 PMID:2334430 PMID:3092644 PMID:7603529 More... NCBI chr 1:106,508,092...106,517,512
Ensembl chr 1:97,366,021...97,433,472 		JBrowse link
G Lrrc31 leucine rich repeat containing 31 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,624,177...114,654,909
Ensembl chr 2:112,700,136...112,724,322 		JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459 		JBrowse link
G Lrriq4 leucine-rich repeats and IQ motif containing 4 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,729,298...112,756,338
Ensembl chr 2:112,729,417...112,753,234 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,708,150...114,726,450
Ensembl chr 2:112,779,657...112,796,397 		JBrowse link
G Nceh1 neutral cholesterol ester hydrolase 1 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,003,677...112,064,274
Ensembl chr 2:110,074,957...110,135,588 		JBrowse link
G Phc3 polyhomeotic homolog 3 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,337,180...114,412,132
Ensembl chr 2:112,408,531...112,476,540 		JBrowse link
G Pld1 phospholipase D1 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,777,820...112,975,857
Ensembl chr 2:110,893,608...111,047,692 		JBrowse link
G Prkci protein kinase C, iota ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,250,398...114,310,784
Ensembl chr 2:112,321,929...112,382,352 		JBrowse link
G Rpl22l1 ribosomal protein L22 like 1 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:113,683,196...113,685,132
Ensembl chr 2:111,754,687...111,756,625 		JBrowse link
G Samd7 sterile alpha motif domain containing 7 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,551,633...114,572,774
Ensembl chr 2:112,624,942...112,639,549 		JBrowse link
G Sec62 SEC62 homolog, preprotein translocation factor ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,499,317...114,526,705
Ensembl chr 2:112,570,819...112,601,814 		JBrowse link
G Skil SKI-like proto-oncogene ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,175,534...114,203,663
Ensembl chr 2:112,247,051...112,275,080 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogenosis Fanconi type
ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI | ClinVar Annotator: match by term: Glycogenosis Fanconi type		 ClinVar
OMIM		 PMID:3839598 PMID:6274135 PMID:7564233 PMID:7632512 PMID:8027028 More... NCBI chr 2:113,537,884...113,568,422
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc7a14 solute carrier family 7, member 14 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:113,993,781...114,099,810
Ensembl chr 2:112,065,286...112,171,313 		JBrowse link
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:111,413,958...111,794,348
Ensembl chr 2:109,485,274...109,865,659 		JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:114,744,148...114,744,535 JBrowse link
G Tmem212 transmembrane protein 212 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:110,775,950...110,813,313
Ensembl chr 2:110,775,953...110,813,273 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:112,136,550...112,155,903
Ensembl chr 2:110,207,916...110,225,135 		JBrowse link
G Tnik TRAF2 and NCK interacting kinase ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome ClinVar PMID:28492532 NCBI chr 2:113,112,937...113,511,341
Ensembl chr 2:111,184,387...111,580,750 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        inherited metabolic disorder 6628
          carbohydrate metabolic disorder 3419
            glucose metabolism disease 2164
              Fanconi-Bickel syndrome 30
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                Fanconi-Bickel syndrome 30
paths to the root