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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 type IIc
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Accession:DOID:0070255 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2. (DO)
Comment:Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases.
Synonyms:exact_synonym: CDG IIc;   CDG2C;   CDGIIc;   RHS;   Rambam Hasharon syndrome;   congenital disorder of glycosylation type 2C
 primary_id: MESH:C535755
 alt_id: OMIM:266265
 xref: GARD:4634;   NCI:C4690;   ORDO:99843
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation type IIc term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
JBrowse link
G Agbl2 AGBL carboxypeptidase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,764,893...76,800,071
Ensembl chr 3:76,764,238...76,800,214
JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455
JBrowse link
G Arhgap1 Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,621,377...77,643,400
Ensembl chr 3:77,620,655...77,643,396
JBrowse link
G Atg13 autophagy related 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,647,069...77,681,028
Ensembl chr 3:77,645,790...77,681,043
JBrowse link
G C1qtnf4 C1q and TNF related 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,854,368...76,872,991
Ensembl chr 3:76,857,735...76,874,139
JBrowse link
G Celf1 CUGBP, Elav-like family member 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,924,591...76,999,429
Ensembl chr 3:76,924,613...76,999,426
JBrowse link
G Chrm4 cholinergic receptor, muscarinic 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159
JBrowse link
G Ckap5 cytoskeleton associated protein 5 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,491,195...77,593,300
Ensembl chr 3:77,491,276...77,593,264
JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274
JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fam180b family with sequence similarity 180 member B ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532
G Fnbp4 formin binding protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,733,012...76,763,077
Ensembl chr 3:76,733,027...76,763,079
JBrowse link
G Harbi1 harbinger transposase derived 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,681,431...77,689,749
Ensembl chr 3:77,681,431...77,689,724
JBrowse link
G Kbtbd4 kelch repeat and BTB domain containing 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,883,671...76,890,799
Ensembl chr 3:76,883,014...76,890,799
JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
JBrowse link
G Mdk midkine ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,901,156...77,903,997
Ensembl chr 3:77,901,158...77,903,130
JBrowse link
G Mtch2 mitochondrial carrier 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,830,549...76,850,189
Ensembl chr 3:76,830,413...76,850,189
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
JBrowse link
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565
JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
JBrowse link
G Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,889,922...76,899,427
Ensembl chr 3:76,889,922...76,899,427
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
G RGD1563263 similar to RIKEN cDNA 1700029I15 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO DNA:missense mutations:cds:p.R147C, p.T308R (human)
ClinVar Annotator: match by term: CDG IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
OMIM
RGD
PMID:1279426 PMID:11213799 PMID:11326279 PMID:11326280 PMID:12116250 More... RGD:1599002 NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,615,595...77,621,325 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type II 106
          congenital disorder of glycosylation type IIc 41
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2567
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type II 106
                  congenital disorder of glycosylation type IIc 41
paths to the root