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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:congenital disorder of glycosylation type II
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Accession:DOID:0050571 term browser browse the term
Definition:A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO)
Synonyms:exact_synonym: CDG II;   CDGII;   congenital disorder of glycosylation type 2
 primary_id: MESH:C535747
 xref: EFO:0005546;   MIM:PS212066


show annotations for term's descendants           Sort by:
congenital disorder of glycosylation type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 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: CDG Ii 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: CDG Ii 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 Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: CDG Ii 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: CDG Ii 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 Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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 Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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: CDG Ii 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 type IIa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199 		JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO
ISS		 OMIM:212066
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa		 OMIM
MouseDO
CTD
ClinVar		 PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 More... NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177 		JBrowse link
Congenital Disorder of Glycosylation Type IIaa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx5 syntaxin 5 ISO OMIM NCBI chr 1:205,637,401...205,653,563
Ensembl chr 1:205,637,413...205,653,563 		JBrowse link
congenital disorder of glycosylation type IIb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Aup1 AUP1, lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,560,274...115,563,346
Ensembl chr 4:115,560,261...115,563,346 		JBrowse link
G Bola3 bolA family member 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797 		JBrowse link
G C1h2orf78 similar to human chromosome 2 open reading frame 78 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 1:92,743,788...92,752,219
Ensembl chr 1:92,746,607...92,752,133 		JBrowse link
G C4h2orf81 similar to human chromosome 2 open reading frame 81 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,661,617...115,667,929
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Ccdc142 coiled-coil domain containing 142 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,606,151...115,616,223
Ensembl chr 4:115,608,485...115,616,216 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Dok1 docking protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,537,453...115,540,464
Ensembl chr 4:115,537,462...115,540,465 		JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590 		JBrowse link
G Dusp11 dual specificity phosphatase 11 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:118,367,673...118,385,183
Ensembl chr 4:118,368,053...118,385,181 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613 		JBrowse link
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Ino80b INO80 complex subunit B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,627,907...115,631,069
Ensembl chr 4:115,627,908...115,631,456 		JBrowse link
G Lbx2 ladybird homeobox 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,591,974...115,593,859
Ensembl chr 4:115,591,974...115,594,132 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466 		JBrowse link
G Mob1a MOB kinase activator 1A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,831,581...115,848,561
Ensembl chr 4:115,831,551...115,848,561
Ensembl chr 1:115,831,551...115,848,561 		JBrowse link
G Mogs mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: CDG IIb | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B | ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10788335 PMID:12145188 PMID:16199547 PMID:24716661 PMID:25531304 More... NCBI chr 4:115,621,623...115,625,026
Ensembl chr 4:115,621,623...115,625,032 		JBrowse link
G Mrpl53 mitochondrial ribosomal protein L53 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,615,329...115,616,219 JBrowse link
G Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,811,135...115,822,663
Ensembl chr 4:115,811,139...115,822,608 		JBrowse link
G Nat8 N-acetyltransferase 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:118,279,521...118,284,671
Ensembl chr 4:118,270,954...118,281,763 		JBrowse link
G Nat8b N-acetyltransferase 8B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:118,359,445...118,364,351
Ensembl chr 4:118,359,443...118,363,563 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402 		JBrowse link
G Pcgf1 polycomb group ring finger 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,576,165...115,587,019
Ensembl chr 4:115,583,867...115,587,008 		JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741 		JBrowse link
G Rtkn rhotekin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,640,813...115,657,952
Ensembl chr 4:115,640,774...115,657,952 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794 		JBrowse link
G Slc4a5 solute carrier family 4 member 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,710,101...115,810,330
Ensembl chr 4:115,725,592...115,810,323 		JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678 		JBrowse link
G Stambp Stam binding protein ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
G Tlx2 T-cell leukemia homeobox 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,573,736...115,576,097
Ensembl chr 4:115,573,799...115,575,642 		JBrowse link
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
G Wbp1 WW domain binding protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,625,168...115,627,567
Ensembl chr 4:115,625,168...115,627,624 		JBrowse link
G Wdr54 WD repeat domain 54 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:115,654,968...115,677,979
Ensembl chr 4:115,654,968...115,661,562 		JBrowse link
Congenital Disorder of Glycosylation Type IIbb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog3 component of oligomeric golgi complex 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIbb OMIM
ClinVar		 PMID:25741868 PMID:37711075 NCBI chr15:51,020,808...51,071,288
Ensembl chr15:51,020,813...51,070,570 		JBrowse link
congenital disorder of glycosylation type IIc term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680 		JBrowse link
G Agbl2 AGBL carboxypeptidase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:76,764,893...76,800,071
Ensembl chr 3:76,764,238...76,800,214 		JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221 		JBrowse link
G Arfgap2 ARF GTPase activating protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455 		JBrowse link
G Arhgap1 Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,621,377...77,643,400
Ensembl chr 3:77,620,655...77,643,396 		JBrowse link
G Atg13 autophagy related 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,647,069...77,681,028
Ensembl chr 3:77,645,790...77,681,043 		JBrowse link
G C1qtnf4 C1q and TNF related 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:76,854,368...76,872,991
Ensembl chr 3:76,857,735...76,874,139 		JBrowse link
G Celf1 CUGBP, Elav-like family member 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:76,924,591...76,999,429
Ensembl chr 3:76,924,613...76,999,426 		JBrowse link
G Chrm4 cholinergic receptor, muscarinic 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159 		JBrowse link
G Ckap5 cytoskeleton associated protein 5 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,491,195...77,593,300
Ensembl chr 3:77,491,276...77,593,264 		JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456 		JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631 		JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099 		JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fam180b family with sequence similarity 180 member B ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532
G Fnbp4 formin binding protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:76,733,012...76,763,077
Ensembl chr 3:76,733,027...76,763,079 		JBrowse link
G Frey1 Frey regulator of sperm-oocyte fusion 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055 		JBrowse link
G Harbi1 harbinger transposase derived 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,681,431...77,689,749
Ensembl chr 3:77,681,431...77,689,724 		JBrowse link
G Kbtbd4 kelch repeat and BTB domain containing 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:76,883,671...76,889,769
Ensembl chr 3:76,883,014...76,890,799 		JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593 		JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701 		JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884 		JBrowse link
G Mdk midkine ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130 		JBrowse link
G Mtch2 mitochondrial carrier 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:76,830,549...76,850,189
Ensembl chr 3:76,830,413...76,850,189 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358 		JBrowse link
G Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:76,889,922...76,899,427
Ensembl chr 3:76,889,922...76,899,427 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO
ISS		 DNA:missense mutations:cds:p.R147C, p.T308R (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome
OMIM:266265		 CTD
ClinVar
MouseDO
OMIM
RGD		 PMID:1279426 PMID:9536098 PMID:11213799 PMID:11326279 PMID:11326280 More... RGD:1599002 NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 3:77,615,595...77,621,325
Ensembl chr 3:77,616,808...77,621,055 		JBrowse link
congenital disorder of glycosylation type IId term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11901181 PMID:25741868 PMID:28492532 PMID:30653653 PMID:32157688 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
congenital disorder of glycosylation type IIe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2E		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15107842 PMID:16199547 PMID:17356545 PMID:17395513 More... NCBI chr 1:176,489,795...176,549,455
Ensembl chr 1:176,489,791...176,549,455 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361 		JBrowse link
G Ndufab1 NADH:ubiquinone oxidoreductase subunit AB1 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 1:176,644,696...176,658,131
Ensembl chr 1:176,644,703...176,658,099 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Ubfd1 ubiquitin family domain containing 1 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 1:176,626,003...176,640,993
Ensembl chr 1:176,625,657...176,640,993 		JBrowse link
congenital disorder of glycosylation type IIf term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: SLC35A1-CDG ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F | ClinVar Annotator: match by term: SLC35A1-CDG		 OMIM
CTD
ClinVar		 PMID:15576474 PMID:21864493 PMID:23873973 PMID:24033266 PMID:25552652 More... NCBI chr 5:49,225,599...49,248,382
Ensembl chr 5:49,225,602...49,248,335 		JBrowse link
congenital disorder of glycosylation type IIg term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog1 component of oligomeric golgi complex 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537452 PMID:17576681 PMID:19008299 More... NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292 		JBrowse link
G Vcf1 VCP nuclear cofactor family member 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G ClinVar PMID:25741868 PMID:28492532 NCBI chr10:98,707,404...98,728,486
Ensembl chr10:98,707,410...98,728,728 		JBrowse link
congenital disorder of glycosylation type IIh term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog8 component of oligomeric golgi complex 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG IIh | ClinVar Annotator: match by term: COG8-CDG		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:17220172 PMID:17331980 PMID:21811164 PMID:23806237 More... NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397 		JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: COG8-CDG ClinVar PMID:25741868 NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515 		JBrowse link
congenital disorder of glycosylation type IIi term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcap29 B-cell receptor-associated protein 29 ISO ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar PMID:23228021 PMID:28492532 NCBI chr 6:48,182,702...48,222,698
Ensembl chr 6:48,182,706...48,222,720 		JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19690088 PMID:23228021 More... NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009 		JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar PMID:23228021 PMID:25741868 PMID:28492532 NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449 		JBrowse link
G Gpr22 G protein-coupled receptor 22 ISO ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar PMID:23228021 PMID:28492532 NCBI chr 6:48,309,619...48,317,864
Ensembl chr 6:48,310,505...48,317,486 		JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar PMID:23228021 PMID:28492532 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
congenital disorder of glycosylation type IIj term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: COG4-CDG OMIM
ClinVar		 PMID:8074143 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19494034 More... NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: COG4-CDG ClinVar PMID:19494034 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418 		JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: COG4-CDG ClinVar PMID:19494034 NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869 		JBrowse link
congenital disorder of glycosylation type IIk term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aasdh aminoadipate-semialdehyde dehydrogenase ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,255,019...31,281,802
Ensembl chr14:31,255,310...31,281,796 		JBrowse link
G Arl9 ARF like GTPase 9 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr14:31,157,573...31,166,803
Ensembl chr14:31,157,586...31,166,699 		JBrowse link
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772 		JBrowse link
G Clock clock circadian regulator ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400 		JBrowse link
G Cracd capping protein inhibiting regulator of actin dynamics ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,284,066...31,520,103
Ensembl chr14:31,284,184...31,522,431 		JBrowse link
G Exoc1 exocyst complex component 1 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,611,536...31,659,920
Ensembl chr14:31,611,547...31,659,914 		JBrowse link
G Hopx HOP homeobox ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr14:31,055,912...31,082,909
Ensembl chr14:31,075,148...31,082,909 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Nmu neuromedin U ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,844,564...31,872,196
Ensembl chr14:31,844,728...31,872,192 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635 		JBrowse link
G Pdcl2 phosducin-like 2 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,874,563...31,895,265
Ensembl chr14:31,874,578...31,895,272 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144 		JBrowse link
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354 		JBrowse link
G Spink2 serine peptidase inhibitor, Kazal type 2 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr14:30,967,682...30,974,326
Ensembl chr14:30,967,714...30,974,326 		JBrowse link
G Spmap2l sperm microtubule associated protein 2 like ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr14:31,110,104...31,152,487
Ensembl chr14:31,110,106...31,151,561 		JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747 		JBrowse link
G Srp72 signal recognition particle 72 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729 		JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: TMEM165-CDG OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22521416 PMID:22683087 PMID:25741868 More... NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717 		JBrowse link
congenital disorder of glycosylation type IIl term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: COG6-CGD OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20605848 PMID:23430903 More... NCBI chr 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190 		JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885 		JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:14,243,684...14,256,555
Ensembl chr  X:14,244,050...14,252,030 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG OMIM
ClinVar		 PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 More... NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:14,213,727...14,222,498
Ensembl chr  X:14,213,729...14,222,498 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:918,817...922,000
Ensembl chr  X:918,817...922,049 		JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:13,931,433...13,939,732
Ensembl chr  X:13,931,470...13,939,720 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,473,349...1,489,520
Ensembl chr  X:1,473,350...1,489,520 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,126,110...1,138,670
Ensembl chr  X:1,126,162...1,138,663 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,362,484...14,373,727
Ensembl chr  X:14,362,860...14,373,727 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:927,439...1,001,474
Ensembl chr  X:899,439...1,000,954 		JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102 		JBrowse link
congenital disorder of glycosylation type IIn term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: CDG IIn ClinVar PMID:20077034 PMID:25741868 PMID:26467025 PMID:26637979 PMID:28492532 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Slc39a8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: CDG IIn | ClinVar Annotator: match by term: SLC39A8-CDG OMIM
ClinVar		 PMID:2809732 PMID:25741868 PMID:26637978 PMID:26637979 PMID:28492532 More... NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129 		JBrowse link
congenital disorder of glycosylation type IIo term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: CCDC115-CDG OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26833332 PMID:28492532 PMID:29759592 More... NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946 		JBrowse link
congenital disorder of glycosylation type IIp term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | ClinVar Annotator: match by term: TMEM199-CDG OMIM
ClinVar		 PMID:19067230 PMID:25741868 PMID:26132555 PMID:26833330 PMID:28492532 More... NCBI chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108 		JBrowse link
congenital disorder of glycosylation type IIq term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156 		JBrowse link
G C19h1orf198 similar to human chromosome 1 open reading frame 198 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,604,060...52,629,436
Ensembl chr19:52,604,060...52,629,436 		JBrowse link
G Capn9 calpain 9 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,549,448...52,586,413
Ensembl chr19:52,549,448...52,586,413 		JBrowse link
G Cog2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24784932 PMID:25741868 PMID:28492532 More... NCBI chr19:52,493,901...52,532,667
Ensembl chr19:52,493,932...52,526,874 		JBrowse link
G Fam89a family with sequence similarity 89, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,710,002...52,722,630
Ensembl chr19:52,710,019...52,722,631 		JBrowse link
G Fsaf1 40S small subunit processome assembly factor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,807,932...52,822,259
Ensembl chr19:52,807,934...52,822,267 		JBrowse link
G Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,213,226...52,324,816
Ensembl chr19:52,213,351...52,324,813 		JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,822,326...52,848,872
Ensembl chr19:52,822,319...52,852,361 		JBrowse link
G Pgbd5 piggyBac transposable element derived 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,336,751...52,401,906
Ensembl chr19:52,336,751...52,402,397 		JBrowse link
G Trim67 tripartite motif-containing 67 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,763,991...52,805,906
Ensembl chr19:52,764,387...52,800,422 		JBrowse link
G Ttc13 tetratricopeptide repeat domain 13 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr19:52,637,599...52,692,196
Ensembl chr19:52,637,431...52,692,198 		JBrowse link
Congenital Disorder of Glycosylation Type IIr term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: CDG IIr | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29127204 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
Congenital Disorder of Glycosylation Type IIt term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: CDG IIt | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit OMIM
ClinVar		 PMID:25741868 PMID:27508872 PMID:28097321 PMID:28492532 PMID:32293671 NCBI chr19:52,213,226...52,324,816
Ensembl chr19:52,213,351...52,324,813 		JBrowse link
Congenital Disorder of Glycosylation Type IIv term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v OMIM
ClinVar		 PMID:25741868 PMID:34143952 NCBI chr13:63,858,282...63,920,538
Ensembl chr13:63,858,716...63,920,523 		JBrowse link
Congenital Disorder of Glycosylation Type IIw term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw OMIM
ClinVar		 PMID:3728255 PMID:9428641 PMID:9536098 PMID:9675154 PMID:9758626 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
Congenital Disorder of Glycosylation Type IIy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Get4 guided entry of tail-anchored proteins factor 4 ISO ClinVar Annotator: match by term: CDG IIy OMIM
ClinVar		 PMID:25741868 PMID:32395830 NCBI chr12:15,377,009...15,394,238
Ensembl chr12:15,377,009...15,394,053 		JBrowse link
Congenital Disorder of Glycosylation Type IIz term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camlg calcium modulating ligand ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIz OMIM
ClinVar		 PMID:35262690 NCBI chr17:8,992,697...9,003,576
Ensembl chr17:8,992,696...9,003,552 		JBrowse link
immunodeficiency 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 47 OMIM
ClinVar		 PMID:25741868 PMID:27231034 PMID:28492532 PMID:28688840 PMID:29192153 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES ClinVar PMID:25741868 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    physical disorder 5182
      congenital disorder of glycosylation 584
        congenital disorder of glycosylation type II 242
          Congenital Disorder of Glycosylation Type IIaa 1
          Congenital Disorder of Glycosylation Type IIbb 1
          Congenital Disorder of Glycosylation Type IIr 1
          Congenital Disorder of Glycosylation Type IIt 1
          Congenital Disorder of Glycosylation Type IIv 1
          Congenital Disorder of Glycosylation Type IIw 1
          Congenital Disorder of Glycosylation Type IIy 1
          Congenital Disorder of Glycosylation Type IIz 1
          congenital disorder of glycosylation type IIa 2
          congenital disorder of glycosylation type IIb 43
          congenital disorder of glycosylation type IIc 41
          congenital disorder of glycosylation type IId 1
          congenital disorder of glycosylation type IIe 9
          congenital disorder of glycosylation type IIf 2
          congenital disorder of glycosylation type IIg 2
          congenital disorder of glycosylation type IIh 2
          congenital disorder of glycosylation type IIi 6
          congenital disorder of glycosylation type IIj 3
          congenital disorder of glycosylation type IIk 20
          congenital disorder of glycosylation type IIl 1
          congenital disorder of glycosylation type IIm 61
          congenital disorder of glycosylation type IIn 2
          congenital disorder of glycosylation type IIo 1
          congenital disorder of glycosylation type IIp 1
          congenital disorder of glycosylation type IIq 12
          immunodeficiency 47 2
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            carbohydrate metabolic disorder 3411
              congenital disorder of glycosylation 584
                congenital disorder of glycosylation type II 242
                  Congenital Disorder of Glycosylation Type IIaa 1
                  Congenital Disorder of Glycosylation Type IIbb 1
                  Congenital Disorder of Glycosylation Type IIr 1
                  Congenital Disorder of Glycosylation Type IIt 1
                  Congenital Disorder of Glycosylation Type IIv 1
                  Congenital Disorder of Glycosylation Type IIw 1
                  Congenital Disorder of Glycosylation Type IIy 1
                  Congenital Disorder of Glycosylation Type IIz 1
                  congenital disorder of glycosylation type IIa 2
                  congenital disorder of glycosylation type IIb 43
                  congenital disorder of glycosylation type IIc 41
                  congenital disorder of glycosylation type IId 1
                  congenital disorder of glycosylation type IIe 9
                  congenital disorder of glycosylation type IIf 2
                  congenital disorder of glycosylation type IIg 2
                  congenital disorder of glycosylation type IIh 2
                  congenital disorder of glycosylation type IIi 6
                  congenital disorder of glycosylation type IIj 3
                  congenital disorder of glycosylation type IIk 20
                  congenital disorder of glycosylation type IIl 1
                  congenital disorder of glycosylation type IIm 61
                  congenital disorder of glycosylation type IIn 2
                  congenital disorder of glycosylation type IIo 1
                  congenital disorder of glycosylation type IIp 1
                  congenital disorder of glycosylation type IIq 12
                  immunodeficiency 47 2
paths to the root