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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:congenital disorder of glycosylation Iaa
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Accession:DOID:0080553 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. (DO)
Synonyms:exact_synonym: CDG1AA;   congenital disorder of glycosylation 1aa;   congenital disorder of glycosylation type 1AA;   congenital disorder of glycosylation type Iaa
 primary_id: OMIM:617082
 alt_id: RDO:9001414


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congenital disorder of glycosylation Iaa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808 		JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:25,990,164...25,993,173
Ensembl chr20:25,990,462...25,993,173 		JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:26,066,270...26,072,348
Ensembl chr20:26,066,242...26,072,272 		JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:26,095,591...26,097,336
Ensembl chr20:26,095,592...26,097,278 		JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494 		JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692 		JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:31,727,617...31,776,904
Ensembl chr20:31,727,620...31,776,903 		JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412 		JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078 		JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600 		JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25066056 PMID:25741868 More... NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:32,629,537...32,639,559 JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147 		JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574 		JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:25,949,723...25,967,147
Ensembl chr20:25,941,966...25,967,193 		JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611 		JBrowse link
G Trappc3l trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:25,992,835...26,084,938
Ensembl chr20:25,967,502...26,078,989 		JBrowse link
G Tspyl1 TSPY-like 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554 		JBrowse link
G Tspyl4 TSPY-like 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:38,098,756...38,100,752
Ensembl chr20:38,098,677...38,103,053 		JBrowse link
G Vgll2 vestigial-like family member 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:31,409,529...31,415,408
Ensembl chr20:31,409,552...31,415,408 		JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital disorder of glycosylation 539
        congenital disorder of glycosylation type I 264
          congenital disorder of glycosylation Iaa 25
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              congenital disorder of glycosylation 539
                congenital disorder of glycosylation type I 264
                  congenital disorder of glycosylation Iaa 25
paths to the root