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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 II
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Accession:DOID:0050571 term browser browse the term
Definition:A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO)
Synonyms:exact_synonym: congenital disorder of glycosylation type 2
 xref: OMIM:PS212066
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II ClinVar PMID:12684507 PMID:25741868 PMID:28492532 PMID:33644825 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
congenital disorder of glycosylation type IIa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II ClinVar PMID:12684507 PMID:28492532 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa ClinVar PMID:28492532 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa OMIM
ClinVar
PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 More... NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
JBrowse link
congenital disorder of glycosylation type IIb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mogs mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: CDG IIb | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb OMIM
ClinVar
PMID:10788335 PMID:24716661 PMID:25741868 PMID:26805780 PMID:28492532 More... NCBI chr 4:115,621,623...115,625,026
Ensembl chr 4:115,621,623...115,625,032
JBrowse link
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 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
congenital disorder of glycosylation type IId term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: CDG IId | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D OMIM
ClinVar
PMID:11901181 PMID:25741868 PMID:28492532 PMID:30653653 PMID:32157688 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
JBrowse link
congenital disorder of glycosylation type IIe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation OMIM
ClinVar
PMID:9536098 PMID:15107842 PMID:16199547 PMID:17356545 PMID:17395513 More... NCBI chr 1:176,489,795...176,549,455
Ensembl chr 1:176,489,791...176,549,455
JBrowse link
congenital disorder of glycosylation type IIf term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: SLC35A1-CDG ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: SLC35A1-CDG OMIM
ClinVar
PMID:15576474 PMID:23873973 PMID:24033266 PMID:25552652 PMID:25741868 More... NCBI chr 5:49,225,599...49,248,405
Ensembl chr 5:49,225,602...49,248,335
JBrowse link
congenital disorder of glycosylation type IIg term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G OMIM
ClinVar
PMID:9536098 PMID:16537452 PMID:17576681 PMID:19008299 PMID:23757202 More... NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292
JBrowse link
G Fam104a family with sequence similarity 104, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G ClinVar PMID:25741868 PMID:28492532 NCBI chr10:98,707,404...98,728,486
Ensembl chr10:98,707,410...98,728,728
JBrowse link
congenital disorder of glycosylation type IIh term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: COG8-CDG OMIM
ClinVar
PMID:16199547 PMID:17220172 PMID:17331980 PMID:21811164 PMID:23806237 More... NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: COG8-CDG ClinVar PMID:25741868 NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
JBrowse link
congenital disorder of glycosylation type IIi term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: COG5-CDG OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19690088 PMID:23228021 More... NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009
JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: COG5-CDG ClinVar PMID:23228021 PMID:25741868 PMID:28492532 NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449
JBrowse link
G Gpr22 G protein-coupled receptor 22 ISO ClinVar Annotator: match by term: COG5-CDG ClinVar PMID:23228021 PMID:28492532 NCBI chr 6:48,309,619...48,317,864
Ensembl chr 6:48,310,505...48,317,486
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: COG5-CDG ClinVar NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787
JBrowse link
congenital disorder of glycosylation type IIj term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: COG4-CDG OMIM
ClinVar
PMID:8074143 PMID:16199547 PMID:19494034 PMID:19651599 PMID:21185756 More... NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
JBrowse link
congenital disorder of glycosylation type IIk term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: TMEM165-CDG OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22683087 PMID:25741868 PMID:28492532 NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717
JBrowse link
congenital disorder of glycosylation type IIl term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: CDG IIl | ClinVar Annotator: match by term: COG6-CGD | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2L OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20605848 PMID:23430903 PMID:23606727 More... NCBI chr 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566
JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: SLC35A2-CDG OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:26350515 More... NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,434,216
Ensembl chr  X:14,421,109...14,433,982
JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:141,793,695...141,795,558 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275
JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,362,479...14,373,727
Ensembl chr  X:14,362,860...14,373,727
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
congenital disorder of glycosylation type IIn term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: SLC39A8-CDG OMIM
ClinVar
PMID:2809732 PMID:23806086 PMID:24088041 PMID:25687216 PMID:25741868 More... NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129
JBrowse link
congenital disorder of glycosylation type IIo term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: CCDC115-CDG OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26833332 PMID:29759592 NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946
JBrowse link
congenital disorder of glycosylation type IIp term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: TMEM199-CDG OMIM
ClinVar
PMID:19067230 PMID:25741868 PMID:26833330 NCBI chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108
JBrowse link
congenital disorder of glycosylation type IIq term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq OMIM
ClinVar
PMID:24784932 PMID:25741868 PMID:28492532 NCBI chr19:52,493,901...52,532,667
Ensembl chr19:52,493,932...52,526,874
JBrowse link
Congenital Disorder of Glycosylation Type IIr term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr OMIM
ClinVar
PMID:25741868 PMID:29127204 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
Congenital Disorder of Glycosylation Type IIt term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit OMIM
ClinVar
PMID:25741868 PMID:27508872 PMID:28097321 PMID:32293671 NCBI chr19:52,213,226...52,324,816
Ensembl chr19:52,213,351...52,324,813
JBrowse link
Congenital Disorder of Glycosylation Type IIv term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v ClinVar
OMIM
PMID:34143952 NCBI chr13:63,858,282...63,920,538
Ensembl chr13:63,858,716...63,920,523
JBrowse link
Congenital Disorder of Glycosylation Type IIw term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw OMIM
ClinVar
PMID:3728255 PMID:25741868 PMID:32884905 PMID:33728255 PMID:33964207 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
immunodeficiency 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 47 OMIM
ClinVar
PMID:25741868 PMID:27231034 PMID:28492532 PMID:29192153 PMID:29396028 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type II 106
          Congenital Disorder of Glycosylation Type IIr 1
          Congenital Disorder of Glycosylation Type IIt 1
          Congenital Disorder of Glycosylation Type IIv 1
          Congenital Disorder of Glycosylation Type IIw 1
          congenital disorder of glycosylation type IIa 3
          congenital disorder of glycosylation type IIb 1
          congenital disorder of glycosylation type IIc 41
          congenital disorder of glycosylation type IId 1
          congenital disorder of glycosylation type IIe 2
          congenital disorder of glycosylation type IIf 2
          congenital disorder of glycosylation type IIg 2
          congenital disorder of glycosylation type IIh 2
          congenital disorder of glycosylation type IIi 4
          congenital disorder of glycosylation type IIj 1
          congenital disorder of glycosylation type IIk 1
          congenital disorder of glycosylation type IIl 1
          congenital disorder of glycosylation type IIm 36
          congenital disorder of glycosylation type IIn 1
          congenital disorder of glycosylation type IIo 1
          congenital disorder of glycosylation type IIp 1
          congenital disorder of glycosylation type IIq 1
          immunodeficiency 47 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            carbohydrate metabolic disorder 2561
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type II 106
                  Congenital Disorder of Glycosylation Type IIr 1
                  Congenital Disorder of Glycosylation Type IIt 1
                  Congenital Disorder of Glycosylation Type IIv 1
                  Congenital Disorder of Glycosylation Type IIw 1
                  congenital disorder of glycosylation type IIa 3
                  congenital disorder of glycosylation type IIb 1
                  congenital disorder of glycosylation type IIc 41
                  congenital disorder of glycosylation type IId 1
                  congenital disorder of glycosylation type IIe 2
                  congenital disorder of glycosylation type IIf 2
                  congenital disorder of glycosylation type IIg 2
                  congenital disorder of glycosylation type IIh 2
                  congenital disorder of glycosylation type IIi 4
                  congenital disorder of glycosylation type IIj 1
                  congenital disorder of glycosylation type IIk 1
                  congenital disorder of glycosylation type IIl 1
                  congenital disorder of glycosylation type IIm 36
                  congenital disorder of glycosylation type IIn 1
                  congenital disorder of glycosylation type IIo 1
                  congenital disorder of glycosylation type IIp 1
                  congenital disorder of glycosylation type IIq 1
                  immunodeficiency 47 1
paths to the root