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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 In
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Accession:DOID:0080566 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: CDG In;   CDG1N;   CDGIn;   congenital disorder of glycosylation 1n;   congenital disorder of glycosylation, type 1N;   congenital disorder of glycosylation, type In
 primary_id: MESH:C567437
 alt_id: OMIM:612015
 xref: GARD:12394;   ORDO:244310

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congenital disorder of glycosylation In term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS1 5'-aminolevulinate synthase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,558,011...13,573,740
Ensembl chr22:13,559,180...13,575,869 		JBrowse link
G BAP1 BRCA1 associated protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,678,132...13,764,988
Ensembl chr22:13,683,487...13,764,937 		JBrowse link
G GLT8D1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,068,377...14,078,064
Ensembl chr22:14,068,718...14,077,775 		JBrowse link
G GLYCTK glycerate kinase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,648,499...13,653,813
Ensembl chr22:13,651,024...13,653,801 		JBrowse link
G GNL3 G protein nucleolar 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,059,191...14,068,388
Ensembl chr22:14,059,204...14,068,155 		JBrowse link
G ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,159,702...14,174,627
Ensembl chr22:14,160,680...14,174,641 		JBrowse link
G ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,176,656...14,191,256
Ensembl chr22:14,177,334...14,191,353 		JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,194,979...14,216,180
Ensembl chr22:14,195,701...14,213,603 		JBrowse link
G MUSTN1 musculoskeletal, embryonic nuclear protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,215,968...14,219,524 JBrowse link
G NEK4 NIMA related kinase 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,083,583...14,152,775
Ensembl chr22:14,121,073...14,152,547 		JBrowse link
G NISCH nischarin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,821,026...13,860,430
Ensembl chr22:13,841,352...13,860,498 		JBrowse link
G NT5DC2 5'-nucleotidase domain containing 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,892,078...13,903,043 JBrowse link
G PBRM1 polybromo 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254 		JBrowse link
G PHF7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,775,280...13,788,012
Ensembl chr22:13,775,359...13,788,011 		JBrowse link
G POC1A POC1 centriolar protein A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,442,516...13,549,290
Ensembl chr22:13,442,368...13,520,345 		JBrowse link
G PPM1M protein phosphatase, Mg2+/Mn2+ dependent 1M ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,606,252...13,611,073
Ensembl chr22:13,606,475...13,612,470 		JBrowse link
G RFT1 RFT1 homolog ISO ClinVar Annotator: match by term: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313027 PMID:19267216 More... NCBI chr22:14,482,709...14,525,665
Ensembl chr22:14,479,361...14,525,618 		JBrowse link
G SEMA3G semaphorin 3G ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,798,635...13,813,779
Ensembl chr22:13,798,366...13,810,183 		JBrowse link
G SFMBT1 Scm like with four mbt domains 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,285,362...14,439,624
Ensembl chr22:14,290,494...14,438,192 		JBrowse link
G SMIM4 small integral membrane protein 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,904,843...13,909,062
Ensembl chr22:13,904,852...13,910,667 		JBrowse link
G SPCS1 signal peptidase complex subunit 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,077,826...14,080,154
Ensembl chr22:14,077,887...14,080,560 		JBrowse link
G STAB1 stabilin 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,862,105...13,892,199
Ensembl chr22:13,870,551...13,896,970 		JBrowse link
G STIMATE STIM activating enhancer ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:14,219,648...14,284,114 JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,816,603...13,819,572
Ensembl chr22:13,816,222...13,819,518 		JBrowse link
G WDR82 WD repeat domain 82 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr22:13,617,169...13,638,896 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    physical disorder 4838
      congenital disorder of glycosylation 532
        congenital disorder of glycosylation type I 267
          congenital disorder of glycosylation In 26
Path 2
Term Annotations click to browse term
  disease 15274
    Developmental Disease 13250
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12364
        genetic disease 12017
          inherited metabolic disorder 5511
            carbohydrate metabolic disorder 2712
              congenital disorder of glycosylation 532
                congenital disorder of glycosylation type I 267
                  congenital disorder of glycosylation In 26
paths to the root