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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 I
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Accession:DOID:0050570 term browser browse the term
Definition:A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO)
Synonyms:exact_synonym: congenital disorder of glycosylation type 1
 xref: EFO:0005545;   OMIM:PS212065



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congenital disorder of glycosylation type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type I ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26931382 More... NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type I ClinVar PMID:11733564 PMID:28492532 NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
G Pmm2 phosphomannomutase 2 ISS
ISO
OMIM:212065 | OMIM:300884 | OMIM:300934 | OMIM:601110 | OMIM:602579 | OMIM:603147 | OMIM:607143 | OMIM:607906 | OMIM:608093 | OMIM:608104 | OMIM:608540 | OMIM:608776 | OMIM:608799 | OMIM:609180 | OMIM:610768 | OMIM:612015 | OMIM:612379 | OMIM:612937 | OMIM:613661 | OMIM:614507 | OMIM:614921 | OMIM:615042 | OMIM:615596 | OMIM:615597 | OMIM:616457
ClinVar Annotator: match by term: Congenital disorder of glycosylation type I
MouseDO
ClinVar
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
congenital disorder of glycosylation Ia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf2 insulin-like growth factor 2 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:19207313 RGD:12910858 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19207313 RGD:12910858 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia | ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation | ClinVar Annotator: match by term: Phosphomannomutase 2 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9140401 PMID:9497260 PMID:9536098 PMID:9710598 PMID:9781039 More... NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
JBrowse link
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 ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
congenital disorder of glycosylation Ib term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam219b family with sequence similarity 219, member B ISO ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome ClinVar NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906
JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: CDG Ib | ClinVar Annotator: match by term: CDG gastrointestinal type | ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type 1B | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B | ClinVar Annotator: match by term: MPI deficiency | ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3080572 PMID:9525984 PMID:9536098 PMID:9585601 PMID:10484808 More... NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
JBrowse link
congenital disorder of glycosylation Ic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V | ClinVar Annotator: match by term: CDG Ic | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ic
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10359825 PMID:10852543 PMID:10914684 PMID:10924277 More... NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439
JBrowse link
congenital disorder of glycosylation Icc term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC OMIM
ClinVar
PMID:24550228 PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link
congenital disorder of glycosylation Id term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc5 ATP binding cassette subfamily C member 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253
JBrowse link
G Abcf3 ATP binding cassette subfamily F member 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,340,476...80,352,211
Ensembl chr11:80,339,977...80,352,211
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8552211 PMID:10581255 PMID:11181649 PMID:12357336 PMID:15108280 More... NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912
JBrowse link
G Ap2m1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140
JBrowse link
G B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:81,141,102...81,153,206
Ensembl chr11:81,140,599...81,156,166
JBrowse link
G Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,289,702...80,290,829 JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Ece2 endothelin-converting enzyme 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,259,130...80,278,446
Ensembl chr11:80,263,162...80,278,428
JBrowse link
G Eef1akmt4 EEF1A lysine methyltransferase 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:25741868 NCBI chr11:80,292,113...80,299,670
Ensembl chr11:80,291,978...80,299,659
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941
JBrowse link
G Fam131a family with sequence similarity 131, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,211,577...80,221,527
Ensembl chr11:80,211,745...80,221,511
JBrowse link
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636
JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677
JBrowse link
G Lamp3 lysosomal-associated membrane protein 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:81,153,491...81,224,643
Ensembl chr11:81,193,649...81,221,784
JBrowse link
G Map6d1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,734,148...80,740,377
Ensembl chr11:80,734,148...80,740,377
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
JBrowse link
G Mir1224 microRNA 1224 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:25741868 PMID:28492532 NCBI chr11:80,306,902...80,306,986
Ensembl chr11:80,306,902...80,306,986
JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
JBrowse link
G Polr2h RNA polymerase II, I and III subunit H ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,192,017...80,197,468
Ensembl chr11:80,192,032...80,197,515
Ensembl chr10:80,192,032...80,197,515
JBrowse link
G Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,248,364...80,258,991
Ensembl chr11:80,248,364...80,259,043
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Vwa5b2 von Willebrand factor A domain containing 5B2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:25741868 PMID:28492532 NCBI chr11:80,306,067...80,323,220
Ensembl chr11:80,306,350...80,323,220
JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208
JBrowse link
congenital disorder of glycosylation Ie term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E ClinVar PMID:10642597 PMID:10642602 PMID:28492532 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
JBrowse link
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:15771971 More... NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536
JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E ClinVar PMID:10642597 PMID:10642602 PMID:28492532 NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890
JBrowse link
congenital disorder of glycosylation If term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F
OMIM
CTD
ClinVar
PMID:11733556 PMID:11733564 PMID:16199547 PMID:25741868 PMID:25954003 More... NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F ClinVar NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591
JBrowse link
congenital disorder of glycosylation Ig term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331
JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 More... NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ig
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11983712 PMID:12093361 PMID:12217961 PMID:12736397 More... NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:23472171 PMID:25741868 PMID:32979048 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
JBrowse link
G Creld2 cysteine-rich with EGF-like domains 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543
JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494
JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228
JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,452,081...120,455,737
Ensembl chr 7:120,453,932...120,455,737
JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395
JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664
JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587
JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330
JBrowse link
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805
JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015
JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075
JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
JBrowse link
congenital disorder of glycosylation Ih term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:12480927 PMID:15235028 PMID:16199547 PMID:17576681 More... NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302
JBrowse link
congenital disorder of glycosylation 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 1I | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II OMIM
ClinVar
PMID:12684507 PMID:20813212 PMID:25741868 PMID:28492532 PMID:30061496 More... NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,743,077...60,765,726
Ensembl chr 5:60,743,443...60,765,717
JBrowse link
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:24033266 PMID:25741868 PMID:26833332 PMID:28492532 PMID:29759592 More... NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946
JBrowse link
G Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591
JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:2040044 PMID:16199547 PMID:17105751 PMID:20400443 PMID:20857253 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354
JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669
JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
JBrowse link
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089
JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
JBrowse link
G Sec61b SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,773,594...61,781,804
Ensembl chr 5:61,773,594...61,781,804
JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
JBrowse link
G Tbc1d2 TBC1 domain family, member 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,884,114...60,931,717
Ensembl chr 5:60,884,124...60,931,352
JBrowse link
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:25741868 PMID:26833330 PMID:28492532 PMID:29321044 NCBI chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108
JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956
JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858
JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423
JBrowse link
G Tstd2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726
JBrowse link
congenital disorder of glycosylation Ij term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J
OMIM
CTD
ClinVar
PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
JBrowse link
congenital disorder of glycosylation Ik term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:14709599 PMID:14973778 PMID:14973782 PMID:16199547 More... NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K ClinVar PMID:9536098 PMID:14709599 PMID:14973782 PMID:17576681 PMID:20679665 More... NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039
JBrowse link
congenital disorder of glycosylation Il term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
OMIM
CTD
ClinVar
PMID:9536098 PMID:15148656 PMID:15945070 PMID:16199547 PMID:17576681 More... NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:9536098 PMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 More... NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
JBrowse link
congenital disorder of glycosylation Im term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: CDG Im | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY | ClinVar Annotator: match by term: DOLK-congenital disorder of glycosylation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17273964 PMID:22242004 PMID:23806237 PMID:23890587 PMID:24033266 More... NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M ClinVar NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
JBrowse link
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 chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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 chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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 chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229
JBrowse link
G Glyctk glycerate kinase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397
JBrowse link
G Gnl3 G protein nucleolar 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,207,402...6,213,491
Ensembl chr16:6,207,402...6,213,392
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 chr16:6,122,246...6,136,363
Ensembl chr16:6,122,248...6,136,363
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 chr16:6,101,922...6,117,154
Ensembl chr16:6,101,930...6,116,924
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 chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
JBrowse link
G Mirlet7g microRNA let-7g ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,822,293...106,822,380
Ensembl chr 8:106,822,280...106,822,388
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 chr16:6,072,908...6,075,161
Ensembl chr16:6,072,833...6,075,161
JBrowse link
G Nek4 NIMA-related kinase 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,144,900...6,185,376
Ensembl chr16:6,144,959...6,188,932
JBrowse link
G Nisch nischarin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,364,370...6,400,675
Ensembl chr16:6,364,374...6,400,668
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 chr16:6,322,485...6,330,538
Ensembl chr16:6,322,236...6,330,537
JBrowse link
G Pbrm1 polybromo 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
JBrowse link
G Phf7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,433,535...6,446,314
Ensembl chr16:6,433,537...6,446,911
JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089
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 chr 8:106,836,221...106,843,472
Ensembl chr 8:106,837,037...106,842,057
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313027 PMID:19267216 More... NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
JBrowse link
G Sema3g semaphorin 3G ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,413,589...6,425,221
Ensembl chr16:6,413,589...6,425,221
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 chr16:5,889,046...6,009,860
Ensembl chr16:5,890,782...6,006,605
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 chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000
JBrowse link
G Stab1 stabilin 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,330,435...6,360,934
Ensembl chr16:6,330,444...6,360,923
JBrowse link
G Stimate STIM activating enhancer ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,013,392...6,070,829
Ensembl chr16:6,013,369...6,071,816
JBrowse link
G Tlr9 toll-like receptor 9 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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 chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634
JBrowse link
G Twf2 twinfilin actin-binding protein 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,845,253...106,858,298
Ensembl chr 8:106,845,253...106,858,298
JBrowse link
G Uqcc5 ubiquinol-cytochrome c reductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,316,631...6,320,471
Ensembl chr16:6,286,300...6,320,642
JBrowse link
G Wdr82 WD repeat domain 82 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,814,569...106,834,535
Ensembl chr 8:106,814,569...106,834,438
JBrowse link
congenital disorder of glycosylation Ip term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P
OMIM
CTD
ClinVar
PMID:10441329 PMID:16283883 PMID:20080937 PMID:22213132 PMID:25741868 More... NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P ClinVar PMID:10441329 PMID:16283883 PMID:25741868 PMID:28492532 PMID:30676690 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
congenital disorder of glycosylation Iq term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:20637498 PMID:20700148 PMID:20852264 More... NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
congenital disorder of glycosylation Ir term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr7a2 aldo-keto reductase family 7, member A2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909
JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409
JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231
JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
G Cela3b chymotrypsin like elastase 3B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937
JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22305527 PMID:25741868 More... NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,197,410...150,418,862
Ensembl chr 5:150,195,226...150,418,363
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399
JBrowse link
G Fam43b family with sequence similarity 43, member B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,610,656...150,613,054
Ensembl chr 5:150,611,609...150,612,601
JBrowse link
G Hp1bp3 heterochromatin protein 1, binding protein 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,435,781...150,463,004
Ensembl chr 5:150,433,740...150,463,000
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912
JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345
JBrowse link
G Kif17 kinesin family member 17 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,482,288...150,521,471
Ensembl chr 5:150,481,578...150,519,638
JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485
JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287
JBrowse link
G Mul1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,652,812...150,661,863
Ensembl chr 5:150,652,812...150,661,863
JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719
JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377
JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525
JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821
JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175
JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658
JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716
JBrowse link
G Sh2d5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,469,738...150,480,615
Ensembl chr 5:150,467,728...150,479,955
JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259
JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723
JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784
JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744
JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719
JBrowse link
G Vwa5b1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:150,792,959...150,864,849
Ensembl chr 5:150,797,322...150,852,518
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link
G Zbtb40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chr 5:149,216,496...149,283,746
Ensembl chr 5:149,219,677...149,254,415
JBrowse link
congenital disorder of glycosylation It term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgm1 phosphoglucomutase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19625727 PMID:22492991 More... NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
JBrowse link
congenital disorder of glycosylation Iu term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,674,577...15,677,322
Ensembl chr 3:15,674,580...15,677,374
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19901254 PMID:23109149 More... NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165
Ensembl chr 3:15,856,182...15,869,165
JBrowse link
G Eeig1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,822,441...15,854,651
Ensembl chr 3:15,823,144...15,854,643
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,741,239...15,747,672
Ensembl chr 3:15,742,919...15,747,669
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,048,591...16,053,198
Ensembl chr 3:16,048,549...16,052,634
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,052,567...16,064,598
Ensembl chr 3:16,048,565...16,064,547
JBrowse link
congenital disorder of glycosylation Iw term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant ClinVar NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant
OMIM
CTD
ClinVar
PMID:23842455 PMID:25741868 PMID:28424003 PMID:28492532 PMID:34653363 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:23842455 PMID:25741868 PMID:28492532 More... NCBI chr 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028
JBrowse link
congenital disorder of glycosylation Iy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y
OMIM
CTD
ClinVar
PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19576565 PMID:25741868 PMID:28492532 PMID:28803818 PMID:29246662 More... NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668
JBrowse link
developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More... NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695
JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:107,380,774...107,405,489
Ensembl chr  X:107,380,774...107,405,489
JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    physical disorder 4936
      congenital disorder of glycosylation 540
        congenital disorder of glycosylation type I 265
          Congenital Disorder of Glycosylation Type 1O 1
          congenital disorder of glycosylation Ia 7
          congenital disorder of glycosylation Iaa 25
          congenital disorder of glycosylation Ib 2
          congenital disorder of glycosylation Ic 1
          congenital disorder of glycosylation Icc 1
          congenital disorder of glycosylation Id 25
          congenital disorder of glycosylation Ie 3
          congenital disorder of glycosylation If 2
          congenital disorder of glycosylation Ig 33
          congenital disorder of glycosylation Ih 1
          congenital disorder of glycosylation Ii 27
          congenital disorder of glycosylation Ij 9
          congenital disorder of glycosylation Ik 2
          congenital disorder of glycosylation Il 10
          congenital disorder of glycosylation Im 2
          congenital disorder of glycosylation In 29
          congenital disorder of glycosylation Ip 2
          congenital disorder of glycosylation Iq 1
          congenital disorder of glycosylation Ir 47
          congenital disorder of glycosylation It 1
          congenital disorder of glycosylation Iu 23
          congenital disorder of glycosylation Iw 2
          congenital disorder of glycosylation Ix 1
          congenital disorder of glycosylation Iy 4
          developmental and epileptic encephalopathy 36 5
Path 2
Term Annotations click to browse term
  disease 21121
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18299
        genetic disease 18243
          inherited metabolic disorder 6209
            carbohydrate metabolic disorder 3264
              congenital disorder of glycosylation 540
                congenital disorder of glycosylation type I 265
                  Congenital Disorder of Glycosylation Type 1O 1
                  congenital disorder of glycosylation Ia 7
                  congenital disorder of glycosylation Iaa 25
                  congenital disorder of glycosylation Ib 2
                  congenital disorder of glycosylation Ic 1
                  congenital disorder of glycosylation Icc 1
                  congenital disorder of glycosylation Id 25
                  congenital disorder of glycosylation Ie 3
                  congenital disorder of glycosylation If 2
                  congenital disorder of glycosylation Ig 33
                  congenital disorder of glycosylation Ih 1
                  congenital disorder of glycosylation Ii 27
                  congenital disorder of glycosylation Ij 9
                  congenital disorder of glycosylation Ik 2
                  congenital disorder of glycosylation Il 10
                  congenital disorder of glycosylation Im 2
                  congenital disorder of glycosylation In 29
                  congenital disorder of glycosylation Ip 2
                  congenital disorder of glycosylation Iq 1
                  congenital disorder of glycosylation Ir 47
                  congenital disorder of glycosylation It 1
                  congenital disorder of glycosylation Iu 23
                  congenital disorder of glycosylation Iw 2
                  congenital disorder of glycosylation Ix 1
                  congenital disorder of glycosylation Iy 4
                  developmental and epileptic encephalopathy 36 5
paths to the root