Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:congenital disorder of glycosylation type I
go back to main search page
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: OMIM:PS212065
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital disorder of glycosylation type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISS MouseDO NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668 		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: Congenital disorder of glycosylation, type Ia | ClinVar Annotator: match by term: Phosphomannomutase 2 deficiency 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: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia | 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: Congenital disorder of glycosylation, type Ia | ClinVar Annotator: match by term: Phosphomannomutase 2 deficiency 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 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA OMIM
ClinVar		 PMID:16199547 PMID:25066056 PMID:25741868 PMID:28492532 PMID:29100083 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		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 8:57,941,251...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 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 OMIM
ClinVar		 PMID:3080572 PMID:9525984 PMID:9585601 PMID:10484808 PMID:10980531 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: Congenital disorder of glycosylation type 1C OMIM
ClinVar		 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: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 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 OMIM
ClinVar		 PMID:8552211 PMID:10581255 PMID:15108280 PMID:15840742 PMID:16006436 More... NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912 		JBrowse link
congenital disorder of glycosylation Ie term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E OMIM
ClinVar		 PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:16199547 More... NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536 		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 ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F OMIM
ClinVar		 PMID:11733556 PMID:11733564 PMID:25741868 PMID:28492532 PMID:28940310 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 chr10:54,373,602...54,376,591
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 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331 		JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation OMIM
ClinVar		 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...119,822,031
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 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...120,456,094
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 RISC complex 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 Odf3b outer dense fiber of sperm tails 3B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749 		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 associated protein 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 1H OMIM
ClinVar		 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: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
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:29759592 NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946 		JBrowse link
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar 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 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 Arcn1 archain 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611 		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 Ccdc153 coiled-coil domain containing 153 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 Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J OMIM
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 Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239 		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 Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662 		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
G Pdzd3 PDZ domain containing 3 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 Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568 		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 OMIM
ClinVar		 PMID:9536098 PMID:14709599 PMID:14973778 PMID:14973782 PMID:16199547 More... NCBI chr10:10,346,541...10,356,779
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 ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il OMIM
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:16199547 PMID:17576681 PMID:18157129 PMID:19321599 More... NCBI chr12:31,949,863...31,979,777
Ensembl chr12:31,822,733...32,007,069 		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 OMIM
ClinVar		 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 Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313027 PMID:19701946 More... NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120 		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 ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P OMIM
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:28492532 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 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
ClinVar		 PMID:9536098 PMID:17576681 PMID:20637498 PMID:20852264 PMID:22304929 More... NCBI chr14:32,046,415...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 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir OMIM
ClinVar		 PMID:22305527 PMID:25741868 PMID:28492532 PMID:34462534 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413 		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
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 ClinVar Annotator: match by term: CDG It | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV OMIM
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...15,677,393
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...15,675,716
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 OMIM
ClinVar		 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 		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 Fam102a family with sequence similarity 102, 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 3:15,823,147...15,854,651
Ensembl chr 3:15,823,144...15,854,643 		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 3:15,742,337...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 3:15,894,278...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 3:16,048,566...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 3:16,048,484...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 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO 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
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 ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x OMIM
ClinVar		 PMID:23842455 PMID:25741868 PMID:28492532 PMID:32253875 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 ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y OMIM
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, DPM3-RELATED OMIM
ClinVar		 PMID:19576565 PMID:28492532 PMID:29246662 PMID:31469168 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More... NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    physical disorder 4121
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          Congenital Disorder of Glycosylation Type 1O 1
          congenital disorder of glycosylation Ia 7
          congenital disorder of glycosylation Iaa 1
          congenital disorder of glycosylation Ib 2
          congenital disorder of glycosylation Ic 1
          congenital disorder of glycosylation Icc 1
          congenital disorder of glycosylation Id 1
          congenital disorder of glycosylation Ie 1
          congenital disorder of glycosylation If 2
          congenital disorder of glycosylation Ig 32
          congenital disorder of glycosylation Ih 1
          congenital disorder of glycosylation Ii 3
          congenital disorder of glycosylation Ij 38
          congenital disorder of glycosylation Ik 2
          congenital disorder of glycosylation Il 3
          congenital disorder of glycosylation Im 2
          congenital disorder of glycosylation In 1
          congenital disorder of glycosylation Ip 2
          congenital disorder of glycosylation Iq 1
          congenital disorder of glycosylation Ir 2
          congenital disorder of glycosylation It 1
          congenital disorder of glycosylation Iu 23
          congenital disorder of glycosylation Iw 1
          congenital disorder of glycosylation Ix 1
          congenital disorder of glycosylation Iy 4
          developmental and epileptic encephalopathy 36 2
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            carbohydrate metabolic disorder 2562
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type I 136
                  Congenital Disorder of Glycosylation Type 1O 1
                  congenital disorder of glycosylation Ia 7
                  congenital disorder of glycosylation Iaa 1
                  congenital disorder of glycosylation Ib 2
                  congenital disorder of glycosylation Ic 1
                  congenital disorder of glycosylation Icc 1
                  congenital disorder of glycosylation Id 1
                  congenital disorder of glycosylation Ie 1
                  congenital disorder of glycosylation If 2
                  congenital disorder of glycosylation Ig 32
                  congenital disorder of glycosylation Ih 1
                  congenital disorder of glycosylation Ii 3
                  congenital disorder of glycosylation Ij 38
                  congenital disorder of glycosylation Ik 2
                  congenital disorder of glycosylation Il 3
                  congenital disorder of glycosylation Im 2
                  congenital disorder of glycosylation In 1
                  congenital disorder of glycosylation Ip 2
                  congenital disorder of glycosylation Iq 1
                  congenital disorder of glycosylation Ir 2
                  congenital disorder of glycosylation It 1
                  congenital disorder of glycosylation Iu 23
                  congenital disorder of glycosylation Iw 1
                  congenital disorder of glycosylation Ix 1
                  congenital disorder of glycosylation Iy 4
                  developmental and epileptic encephalopathy 36 2
paths to the root