Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:GLUT1 Deficiency Syndrome
go back to main search page
Accession:DOID:9007802 term browser browse the term
Synonyms:exact_synonym: De Vivo disease;   Encephalopathy Due To Glut1 Deficiency;   GLUT-1 deficiency syndrome;   GLUT1 deficiency syndrome 1;   GLUT1DS;   GLUT1DS1;   Glucose Transporter Protein Syndrome;   Glucose Transporter Type 1 Deficiency Syndrome;   Glucose transport defect, blood-brain barrier;   Glucose transporter type1 (GLUT-1) deficiency
 narrow_synonym: GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE;   GLUT1 deficiency syndrome 1, autosomal recessive
 primary_id: MESH:C536830
 alt_id: OMIM:606777
 xref: NCI:C168599;   ORDO:71277
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
GLUT1 Deficiency Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome
ClinVar Annotator: match by term: Glut1 deficiency syndrome 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple
DNA:deletions: :multiple
ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive
OMIM
ClinVar
CTD
PMID:1714544, PMID:8808284, PMID:9335548, PMID:9462754, PMID:10766892, PMID:10980529, PMID:11076005, PMID:11102982, PMID:11136715, PMID:11389907, PMID:11477212, PMID:11603379, PMID:12325075, PMID:12752470, PMID:15622525, PMID:16217704, PMID:16949238, PMID:17052934, PMID:17489814, PMID:17718830, PMID:18403583, PMID:18414213, PMID:18451999, PMID:18577546, PMID:18606970, PMID:19630075, PMID:19798636, PMID:19996082, PMID:20129935, PMID:20221955, PMID:20301603, PMID:20417043, PMID:20574033, PMID:20687207, PMID:21069159, PMID:21135204, PMID:21546317, PMID:21555602, PMID:21791420, PMID:21832227, PMID:21865127, PMID:22282645, PMID:22492876, PMID:22704013, PMID:22976442, PMID:23106342, PMID:23280796, PMID:23306390, PMID:23340081, PMID:23443458, PMID:23448551, PMID:24080273, PMID:24215330, PMID:24847886, PMID:24963779, PMID:25022942, PMID:25099510, PMID:25167861, PMID:25326635, PMID:25381171, PMID:25487684, PMID:25564316, PMID:25741868, PMID:25914049, PMID:25982116, PMID:26193382, PMID:26216499, PMID:26267703, PMID:26304067, PMID:26336901, PMID:26467025, PMID:26537434, PMID:26598494, PMID:26615598, PMID:26982753, PMID:27351150, PMID:28018440, PMID:28116237, PMID:28492532, PMID:28554332, PMID:28717674, PMID:28961260, PMID:30311386, PMID:30588498, PMID:9462754, PMID:22011817, PMID:20382060, PMID:22683290 RGD:1624245, RGD:12879464, RGD:12879473, RGD:12879476 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      GLUT1 Deficiency Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            carbohydrate metabolic disorder 386
              GLUT1 Deficiency Syndrome 1
paths to the root

NHLBI Logo

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