Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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 chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471 		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 chr 6:114,337,385...114,369,423
Ensembl chr 6:118,482,269...118,512,046 		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 chr 6:114,319,599...114,325,898
Ensembl chr 6:118,464,517...118,471,411 		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 chr 6:114,263,062...114,265,898
Ensembl chr 6:118,409,813...118,411,574 		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 chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797 		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 chr 6:113,921,538...113,961,490
Ensembl chr 6:118,067,477...118,074,684 		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 chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282 		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 chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193 		JBrowse link
G FAM162B family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr 6:114,534,874...114,573,958
Ensembl chr 6:118,704,146...118,717,760 		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 chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010 		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 chr 6:114,601,360...114,638,286
Ensembl chr 6:118,744,929...118,781,099 		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 chr 6:114,488,850...114,550,061
Ensembl chr 6:118,641,551...118,684,486 		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 chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865 		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 chr 6:113,903,473...114,051,784 JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25066056 PMID:25741868 More... NCBI chr 6:115,486,422...115,521,317 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 chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668 		JBrowse link
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA ClinVar PMID:28492532 PMID:29100083 PMID:31273557 NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884 		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 chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053 		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 chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812 		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 chr 6:114,379,178...114,401,570
Ensembl chr 6:118,524,052...118,546,373 		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 chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465 		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 chr 6:114,303,027...114,355,958
Ensembl chr 6:118,449,441...118,498,836 		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 chr 6:114,079,317...114,082,540
Ensembl chr 6:118,226,765...118,228,081 		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 chr 6:114,052,540...114,056,709
Ensembl chr 6:118,201,097...118,202,341 		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 chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541 		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 chr 6:114,443,844...114,477,220
Ensembl chr 6:118,598,031...118,621,081 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital disorder of glycosylation 541
        congenital disorder of glycosylation type I 269
          congenital disorder of glycosylation Iaa 26
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            carbohydrate metabolic disorder 2685
              congenital disorder of glycosylation 541
                congenital disorder of glycosylation type I 269
                  congenital disorder of glycosylation Iaa 26
paths to the root