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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;   OMIM: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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II		 CTD
ClinVar		 PMID:12684507 PMID:20813212 PMID:25741868 PMID:28492532 PMID:30061496 More... NCBI chr 4:47,469,833...47,474,367
Ensembl chr 4:47,465,067...47,474,333 		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 4:47,015,365...47,057,339
Ensembl chr 4:47,015,669...47,057,427 		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 4:46,450,926...46,472,657
Ensembl chr 4:46,450,902...46,472,657 		JBrowse link
G Col15a1 collagen, type XV, alpha 1 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:47,207,744...47,313,165
Ensembl chr 4:47,208,161...47,313,167 		JBrowse link
G Coro2a coronin, actin binding protein 2A ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,536,937...46,601,929
Ensembl chr 4:46,536,937...46,602,202 		JBrowse link
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:48,190,711...48,279,635
Ensembl chr 4:48,193,323...48,279,558 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,343,644...46,345,774
Ensembl chr 4:46,343,609...46,346,412 		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 4:46,662,318...46,991,714
Ensembl chr 4:46,662,305...46,991,873 		JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:47,091,894...47,123,058
Ensembl chr 4:47,091,909...47,123,070 		JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,393,989...46,404,183
Ensembl chr 4:46,393,989...46,413,506 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:48,279,707...48,431,956
Ensembl chr 4:48,279,760...48,431,954 		JBrowse link
G Nans N-acetylneuraminic acid synthase (sialic acid synthase) ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,489,319...46,503,439
Ensembl chr 4:46,489,248...46,503,632 		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 4:46,138,732...46,172,403
Ensembl chr 4:46,138,613...46,172,403 		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 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447 		JBrowse link
G Sec61b SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:47,474,661...47,483,233
Ensembl chr 4:47,474,658...47,483,242 		JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:48,124,912...48,186,507
Ensembl chr 4:48,124,915...48,186,507 		JBrowse link
G Tbc1d2 TBC1 domain family, member 2 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,604,390...46,650,396
Ensembl chr 4:46,604,390...46,650,209 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:45,965,335...46,034,766
Ensembl chr 4:45,965,334...46,034,761 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,038,940...46,116,032
Ensembl chr 4:46,038,935...46,116,032 		JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,505,072...46,536,148
Ensembl chr 4:46,493,781...46,536,141 		JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,376,505...46,393,557
Ensembl chr 4:46,376,505...46,389,437 		JBrowse link
G Tstd2 thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,114,746...46,138,725
Ensembl chr 4:46,114,746...46,138,694 		JBrowse link
G Xpa xeroderma pigmentosum, complementation group A ISO ClinVar Annotator: match by term: CDG Ii ClinVar PMID:20813212 PMID:28492532 NCBI chr 4:46,175,222...46,196,317
Ensembl chr 4:46,155,347...46,196,311 		JBrowse link
congenital disorder of glycosylation type IIa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II ClinVar PMID:12684507 PMID:28492532 NCBI chr 4:47,469,833...47,474,367
Ensembl chr 4:47,465,067...47,474,333 		JBrowse link
G Dnaaf2 dynein, axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa ClinVar PMID:28492532 NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203 		JBrowse link
G Mgat2 mannoside acetylglucosaminyltransferase 2 ISO
IAGP		 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:212066		 OMIM
CTD
ClinVar
MouseDO		 PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 More... NCBI chr12:69,230,932...69,233,547
Ensembl chr12:69,230,931...69,233,544 		JBrowse link
Congenital Disorder of Glycosylation Type IIaa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx5a syntaxin 5A ISO OMIM NCBI chr19:8,718,788...8,733,006
Ensembl chr19:8,718,777...8,733,433 		JBrowse link
congenital disorder of glycosylation type IIb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700003E16Rik RIKEN cDNA 1700003E16 gene 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 6:83,133,386...83,139,957
Ensembl chr 6:83,133,386...83,139,927 		JBrowse link
G Actg2 actin, gamma 2, smooth muscle, enteric 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 6:83,489,891...83,513,233
Ensembl chr 6:83,489,887...83,513,247 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated 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 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		JBrowse link
G Aup1 ancient ubiquitous 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 6:83,031,483...83,034,663
Ensembl chr 6:83,031,502...83,034,789 		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 6:83,326,129...83,337,118
Ensembl chr 6:83,326,129...83,337,118 		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 6:83,078,497...83,086,102
Ensembl chr 6:83,078,582...83,085,375 		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 6:85,428,487...85,445,459
Ensembl chr 6:85,428,496...85,445,457 		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 6:84,548,396...84,570,890
Ensembl chr 6:84,548,396...84,570,890 		JBrowse link
G Dctn1 dynactin 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 6:83,142,702...83,177,103
Ensembl chr 6:83,142,902...83,177,099 		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 6:83,457,199...83,483,887
Ensembl chr 6:83,457,199...83,483,951 		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 6:83,007,915...83,010,448
Ensembl chr 6:83,007,915...83,010,452 		JBrowse link
G Dqx1 DEAQ RNA-dependent ATPase 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 6:83,034,728...83,044,294
Ensembl chr 6:83,034,825...83,044,299 		JBrowse link
G Dusp11 dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 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 6:85,919,250...85,938,950
Ensembl chr 6:85,919,250...85,938,649 		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 6:85,488,103...85,490,571
Ensembl chr 6:85,488,103...85,490,571 		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 6:85,164,913...85,181,445
Ensembl chr 6:85,164,420...85,181,444 		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 6:84,595,468...85,046,524
Ensembl chr 6:84,595,469...85,046,495 		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 6:85,446,556...85,479,976
Ensembl chr 6:85,446,556...85,479,976 		JBrowse link
G Gm5114 predicted gene 5114 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 7:39,056,718...39,062,584
Ensembl chr 7:39,056,718...39,062,584 		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 6:83,028,247...83,031,552
Ensembl chr 6:83,028,247...83,032,254 		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 6:83,098,746...83,102,100
Ensembl chr 6:83,098,746...83,102,412 		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 6:83,063,346...83,065,224
Ensembl chr 6:83,063,348...83,065,224 		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 6:83,011,186...83,029,547
Ensembl chr 6:83,011,154...83,029,543 		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 6:83,303,016...83,320,758
Ensembl chr 6:83,302,998...83,320,758 		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 6:83,092,477...83,095,883
Ensembl chr 6:83,092,477...83,095,879 		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 6:83,086,089...83,086,913
Ensembl chr 6:83,086,021...83,086,920 		JBrowse link
G Mthfd2 methylenetetrahydrofolate dehydrogenase (NAD+ dependent), 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 6:83,282,686...83,302,926
Ensembl chr 6:83,282,673...83,302,890 		JBrowse link
G Nat8 N-acetyltransferase 8 (GCN5-related) 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 6:85,807,369...85,813,839
Ensembl chr 6:85,807,370...85,809,064 		JBrowse link
G Nat8b-ps N-acetyltransferase 8B, pseudogene 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 6:85,909,539...85,910,364
Ensembl chr 6:85,909,663...85,910,361 		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 6:85,400,851...85,405,859
Ensembl chr 6:85,400,868...85,405,859 		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 6:83,047,573...83,057,836
Ensembl chr 6:83,054,850...83,057,836 		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 6:85,423,767...85,428,969
Ensembl chr 6:85,423,792...85,428,952 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 (class I) 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 6:85,311,944...85,351,663
Ensembl chr 6:85,311,944...85,351,616 		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 6:83,112,485...83,129,560
Ensembl chr 6:83,112,444...83,129,560 		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 6:85,190,031...85,310,488
Ensembl chr 6:85,190,031...85,310,404 		JBrowse link
G Slc4a5 solute carrier family 4, sodium bicarbonate cotransporter, 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 6:83,184,561...83,281,927
Ensembl chr 6:83,196,810...83,281,927 		JBrowse link
G Smyd5 SET and MYND domain containing 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 6:85,408,958...85,423,411
Ensembl chr 6:85,408,971...85,423,417 		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 6:85,110,662...85,114,746
Ensembl chr 6:85,107,158...85,114,748 		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 6:83,520,188...83,552,781
Ensembl chr 6:83,520,193...83,549,711 		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 6:83,339,355...83,434,190
Ensembl chr 6:83,339,355...83,436,066 		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 6:83,045,306...83,047,206
Ensembl chr 6:83,045,305...83,047,274 		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 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266 		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 6:83,096,025...83,098,442
Ensembl chr 6:83,096,025...83,098,540 		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 6:83,129,691...83,133,383
Ensembl chr 6:83,126,342...83,133,379 		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:37711075 NCBI chr14:75,939,791...75,992,078
Ensembl chr14:75,939,790...75,991,998 		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 2:91,033,157...91,044,443
Ensembl chr 2:91,033,230...91,044,443 		JBrowse link
G Agbl2 ATP/GTP binding protein-like 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:90,613,029...90,664,781
Ensembl chr 2:90,613,071...90,664,781 		JBrowse link
G Ambra1 autophagy/beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:91,560,464...91,749,194
Ensembl chr 2:91,560,479...91,749,194 		JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:91,095,460...91,107,716
Ensembl chr 2:91,095,319...91,107,276 		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 2:91,480,463...91,502,670
Ensembl chr 2:91,480,205...91,502,671 		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 2:91,504,957...91,540,947
Ensembl chr 2:91,504,963...91,540,921 		JBrowse link
G C1qtnf4 C1q and tumor necrosis factor related protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:90,713,132...90,720,870
Ensembl chr 2:90,716,204...90,720,869 		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 2:90,770,604...90,849,842
Ensembl chr 2:90,770,727...90,849,842 		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 2:91,752,531...91,760,180
Ensembl chr 2:91,757,594...91,759,033 		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 2:91,357,092...91,451,024
Ensembl chr 2:91,357,107...91,451,009 		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 2:91,812,673...91,854,515
Ensembl chr 2:91,812,673...91,854,847 		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 2:92,233,991...92,264,426
Ensembl chr 2:92,233,991...92,264,388 		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 2:91,103,585...91,275,059
Ensembl chr 2:91,105,413...91,275,049 		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 2:91,041,924...91,067,465
Ensembl chr 2:91,041,917...91,067,327 		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 2:91,763,167...91,806,788
Ensembl chr 2:91,763,169...91,806,209 		JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G Fnbp4 formin binding protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:90,575,793...90,611,365
Ensembl chr 2:90,575,714...90,611,365 		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 2:92,213,263...92,213,948
Ensembl chr 2:92,212,883...92,216,053 		JBrowse link
G Gm32514 predicted gene, 32514 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:90,720,968...90,724,283 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 2:91,541,197...91,554,016
Ensembl chr 2:91,541,197...91,551,890 		JBrowse link
G Kbtbd4 kelch repeat and BTB (POZ) domain containing 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:90,735,113...90,740,905
Ensembl chr 2:90,735,084...90,741,970 		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 2:92,195,391...92,201,437
Ensembl chr 2:92,195,391...92,205,214 		JBrowse link
G Lrp4 low density lipoprotein receptor-related protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:91,287,794...91,344,246
Ensembl chr 2:91,287,856...91,344,124 		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 2:90,967,705...91,013,404
Ensembl chr 2:90,967,705...91,014,182 		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 2:92,214,021...92,231,608
Ensembl chr 2:92,214,021...92,231,608 		JBrowse link
G Mdk midkine ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:91,760,149...91,762,348
Ensembl chr 2:91,760,150...91,762,642 		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 2:90,677,434...90,697,154
Ensembl chr 2:90,677,499...90,697,154 		JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861 		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 2:90,724,971...90,735,065
Ensembl chr 2:90,724,978...90,735,171 		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 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179 		JBrowse link
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:90,504,405...90,570,217
Ensembl chr 2:90,507,559...90,566,672 		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 2:91,086,215...91,095,025
Ensembl chr 2:91,086,299...91,095,024 		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 2:92,205,043...92,211,563
Ensembl chr 2:92,205,021...92,211,562 		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 2:92,014,096...92,195,011
Ensembl chr 2:92,014,451...92,195,011 		JBrowse link
G Psmc3 proteasome (prosome, macropain) 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:90,884,361...90,889,783
Ensembl chr 2:90,884,354...90,896,714 		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 2:90,741,057...90,748,395
Ensembl chr 2:90,739,060...90,748,389 		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 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074 		JBrowse link
G Slc35c1 solute carrier family 35, member C1 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:266265
DNA:missense mutations:cds:p.R147C, p.T308R (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1279426 PMID:9536098 PMID:11213799 PMID:11326279 PMID:11326280 More... RGD:1599002 NCBI chr 2:92,283,109...92,290,863
Ensembl chr 2:92,283,109...92,290,883 		JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762 		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 2:90,912,750...90,946,104
Ensembl chr 2:90,912,735...90,946,101 		JBrowse link
G Zfp408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:16455955 PMID:24403049 PMID:28492532 NCBI chr 2:91,473,101...91,480,372
Ensembl chr 2:91,474,014...91,480,136 		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 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 PMID:30653653 PMID:32157688 NCBI chr 4:40,804,602...40,855,711
Ensembl chr 4:40,804,602...40,854,005 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		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 7:121,522,059...121,580,940
Ensembl chr 7:121,478,586...121,580,934 		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 7:121,633,385...121,666,436
Ensembl chr 7:121,636,436...121,666,486 		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 7:121,585,945...121,620,421
Ensembl chr 7:121,585,945...121,620,445 		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 7:121,686,038...121,701,071
Ensembl chr 7:121,684,626...121,701,109 		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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Scnn1b sodium channel, nonvoltage-gated 1 beta ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 7:121,464,261...121,517,951
Ensembl chr 7:121,464,261...121,517,737 		JBrowse link
G Scnn1g sodium channel, nonvoltage-gated 1 gamma ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 7:121,333,643...121,367,705
Ensembl chr 7:121,333,702...121,367,698 		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 7:121,666,318...121,681,422
Ensembl chr 7:121,666,398...121,681,417 		JBrowse link
congenital disorder of glycosylation type IIf term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: SLC35A1-CDG ClinVar PMID:24033266 PMID:28492532 NCBI chr 4:34,614,941...34,660,167
Ensembl chr 4:34,614,957...34,660,167 		JBrowse link
G Slc35a1 solute carrier family 35 (CMP-sialic acid transporter), member 1 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 4:34,663,257...34,688,113
Ensembl chr 4:34,663,257...34,687,438 		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 chr11:113,540,004...113,560,157
Ensembl chr11:113,539,995...113,557,880 		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 chr11:113,552,145...113,574,988
Ensembl chr11:113,552,145...113,574,981 		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 chr 8:107,775,341...107,783,369
Ensembl chr 8:107,772,921...107,783,321 		JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: COG8-CDG ClinVar PMID:25741868 NCBI chr 8:107,772,921...107,775,246
Ensembl chr 8:107,771,330...107,775,246 		JBrowse link
congenital disorder of glycosylation type IIi term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: CDG IIi | ClinVar Annotator: match by term: COG5-CDG
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19690088 PMID:23228021 More... NCBI chr12:31,704,848...31,987,629
Ensembl chr12:31,704,868...31,987,629 		JBrowse link
G Dus4l dihydrouridine synthase 4 like ISO ClinVar Annotator: match by term: COG5-CDG ClinVar PMID:23228021 PMID:25741868 PMID:28492532 NCBI chr12:31,690,049...31,704,834
Ensembl chr12:31,690,049...31,704,825 		JBrowse link
G Gpr22 G protein-coupled receptor 22 ISO ClinVar Annotator: match by term: COG5-CDG ClinVar PMID:23228021 PMID:28492532 NCBI chr12:31,756,866...31,763,882
Ensembl chr12:31,756,866...31,763,946 		JBrowse link
G Hbp1 high mobility group box transcription factor 1 ISO ClinVar Annotator: match by term: COG5-CDG ClinVar NCBI chr12:31,976,449...32,000,529
Ensembl chr12:31,976,253...32,000,534 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8074143 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19494034 More... NCBI chr 8:111,573,232...111,608,866
Ensembl chr 8:111,573,232...111,608,859 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: COG4-CDG ClinVar PMID:19494034 NCBI chr 8:111,609,088...111,629,120
Ensembl chr 8:111,609,088...111,629,120 		JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: COG4-CDG ClinVar PMID:19494034 NCBI chr 8:111,646,520...111,699,132
Ensembl chr 8:111,646,554...111,699,112 		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 chr 5:77,021,506...77,053,376
Ensembl chr 5:77,021,506...77,053,361 		JBrowse link
G Arl9 ADP-ribosylation factor-like 9 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr 5:77,146,054...77,158,806
Ensembl chr 5:77,151,902...77,158,453 		JBrowse link
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:76,736,495...76,794,313
Ensembl chr 5:76,736,545...76,794,313 		JBrowse link
G Clock clock circadian regulator ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:76,357,715...76,452,675
Ensembl chr 5:76,357,715...76,452,639 		JBrowse link
G Cracd capping protein inhibiting regulator of actin ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:76,803,225...77,021,393
Ensembl chr 5:76,804,359...77,021,392 		JBrowse link
G Exoc1 exocyst complex component 1 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:76,677,147...76,718,134
Ensembl chr 5:76,677,158...76,718,141 		JBrowse link
G Hopx HOP homeobox ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr 5:77,234,831...77,262,970
Ensembl chr 5:77,234,835...77,262,968 		JBrowse link
G Kdr kinase insert domain protein receptor ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		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 chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Nmu neuromedin U ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:76,481,342...76,511,624
Ensembl chr 5:76,481,342...76,511,635 		JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:77,099,149...77,115,356
Ensembl chr 5:77,099,154...77,115,356 		JBrowse link
G Pdcl2 phosducin-like 2 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:76,459,963...76,479,003
Ensembl chr 5:76,459,962...76,479,003 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:77,061,096...77,099,425
Ensembl chr 5:77,061,096...77,099,425 		JBrowse link
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr 5:77,413,273...77,434,279
Ensembl chr 5:77,413,338...77,434,279 		JBrowse link
G Spink2 serine peptidase inhibitor, Kazal type 2 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr 5:77,352,953...77,364,106
Ensembl chr 5:77,352,954...77,359,318 		JBrowse link
G Spmap2l sperm microtubule associated protein 2 like ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:28492532 NCBI chr 5:77,163,879...77,209,382
Ensembl chr 5:77,163,870...77,209,376 		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 chr 5:76,285,296...76,303,350
Ensembl chr 5:76,288,118...76,303,351 		JBrowse link
G Srp72 signal recognition particle 72 ISO ClinVar Annotator: match by term: TMEM165-CDG ClinVar PMID:22521416 PMID:26657937 PMID:28492532 NCBI chr 5:77,122,548...77,147,782
Ensembl chr 5:77,122,530...77,147,784 		JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: TMEM165-CDG
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:22521416 PMID:22683087 PMID:25741868 More... NCBI chr 5:76,331,727...76,357,091
Ensembl chr 5:76,331,727...76,357,092 		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 | ClinVar Annotator: match by term: COG6-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20605848 PMID:23430903 More... NCBI chr 3:52,889,544...52,924,644
Ensembl chr 3:52,889,296...52,924,658 		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 anchor protein 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:6,933,754...6,944,848
Ensembl chr  X:6,933,758...6,944,848 		JBrowse link
G Araf Araf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,663,946...20,726,760
Ensembl chr  X:20,664,053...20,726,758 		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:6,226,108...6,232,778
Ensembl chr  X:6,226,161...6,232,775 		JBrowse link
G Btbd35f6 BTB domain containing 35, family member 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:33,392,137...33,394,056
Ensembl chr  X:33,392,507...33,394,003 		JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		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:7,597,953...7,607,563
Ensembl chr  X:7,597,953...7,617,144 		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:7,460,048...7,471,659
Ensembl chr  X:7,460,048...7,471,756 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:6,845,890...6,907,894
Ensembl chr  X:6,845,891...6,907,858 		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:20,554,210...20,566,119
Ensembl chr  X:20,554,193...20,566,119 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
G Clcn5 chloride channel, voltage-sensitive 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:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:6,691,103...6,814,602
Ensembl chr  X:6,690,410...6,814,602 		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:8,051,568...8,059,751
Ensembl chr  X:8,051,568...8,059,751 		JBrowse link
G Elk1 ELK1, member of ETS oncogene family ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,799,634...20,816,847
Ensembl chr  X:20,799,634...20,816,847 		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:7,790,515...7,794,846
Ensembl chr  X:7,790,515...7,794,846 		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:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		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:8,104,907...8,118,609
Ensembl chr  X:8,104,907...8,118,645 		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:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		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:7,870,440...7,884,731
Ensembl chr  X:7,870,439...7,884,731 		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:7,563,373...7,576,500
Ensembl chr  X:7,563,370...7,576,501 		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:7,656,009...7,686,805
Ensembl chr  X:7,656,004...7,686,806 		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:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Kcnd1 potassium voltage-gated channel, Shal-related family, 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:7,686,907...7,704,517
Ensembl chr  X:7,688,528...7,704,519 		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:7,539,405...7,547,490
Ensembl chr  X:7,539,403...7,547,490 		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:7,103,922...7,104,013
Ensembl chr  X:7,103,922...7,104,013 		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:7,114,641...7,114,736
Ensembl chr  X:7,114,641...7,114,736 		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:20,481,565...20,483,858
Ensembl chr  X:20,481,565...20,483,858 		JBrowse link
G Otud5 OTU 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:7,705,852...7,742,861
Ensembl chr  X:7,707,603...7,742,865 		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:7,786,061...7,790,649
Ensembl chr  X:7,786,061...7,790,649 		JBrowse link
G Pim2 proviral integration site 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:7,744,545...7,749,671
Ensembl chr  X:7,744,501...7,749,671 		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:7,534,180...7,537,629
Ensembl chr  X:7,534,180...7,537,629 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:8,060,085...8,072,794
Ensembl chr  X:8,060,087...8,072,764 		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:7,424,815...7,440,541
Ensembl chr  X:7,423,535...7,440,522 		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:7,760,759...7,765,469
Ensembl chr  X:7,760,758...7,765,508 		JBrowse link
G Praf2 PRA1 domain family 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:7,594,810...7,597,302
Ensembl chr  X:7,594,678...7,597,303 		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:7,523,616...7,535,086
Ensembl chr  X:7,523,499...7,534,425 		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:20,483,596...20,517,128
Ensembl chr  X:20,483,742...20,517,140 		JBrowse link
G Rbm3 RNA binding motif (RNP1, RRM) 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:8,005,214...8,012,119
Ensembl chr  X:8,005,214...8,012,119 		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:6,312,012...6,549,508
Ensembl chr  X:6,311,908...6,549,502 		JBrowse link
G Slc35a2 solute carrier family 35 (UDP-galactose transporter), 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 More... NCBI chr  X:7,750,189...7,760,699
Ensembl chr  X:7,750,267...7,760,731 		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:8,137,620...8,146,418
Ensembl chr  X:8,137,372...8,146,418 		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:20,934,669...20,944,197
Ensembl chr  X:20,934,645...20,944,202 		JBrowse link
G Ssxa1 SSX member A1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,984,653...20,988,327
Ensembl chr  X:20,982,059...20,987,431 		JBrowse link
G Ssxb2 SSX member B2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:8,320,582...8,327,965
Ensembl chr  X:8,320,584...8,327,965 		JBrowse link
G Ssxb5 SSX member B5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:8,669,930...8,676,348
Ensembl chr  X:8,669,930...8,675,625 		JBrowse link
G Suv39h1 suppressor of variegation 3-9 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:7,927,401...7,940,994
Ensembl chr  X:7,927,410...7,940,999 		JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,726,750...20,787,157
Ensembl chr  X:20,726,750...20,787,243 		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:7,504,819...7,519,495
Ensembl chr  X:7,504,710...7,519,495 		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:8,020,709...8,042,420
Ensembl chr  X:8,020,711...8,042,420 		JBrowse link
G Tfe3 transcription factor E3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,628,769...7,641,441
Ensembl chr  X:7,628,799...7,641,441 		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:7,765,575...7,773,891
Ensembl chr  X:7,765,596...7,776,168 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		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:20,524,660...20,549,420
Ensembl chr  X:20,524,565...20,549,418 		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:20,570,148...20,586,778
Ensembl chr  X:20,570,145...20,586,778 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X chromosome ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,238,830...7,242,069
Ensembl chr  X:7,237,513...7,242,069 		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:20,818,162...20,828,259
Ensembl chr  X:20,807,961...20,828,256 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		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:7,989,540...7,999,134
Ensembl chr  X:7,989,540...7,999,131 		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:7,588,212...7,594,439
Ensembl chr  X:7,580,572...7,594,445 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr 5:138,439,721...138,459,162
Ensembl chr 5:138,439,730...138,458,956 		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:20,892,423...20,928,357
Ensembl chr  X:20,895,178...20,928,555 		JBrowse link
congenital disorder of glycosylation type IIn term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a8 solute carrier family 39 (metal ion transporter), member 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SLC39A8-CDG		 OMIM
CTD
ClinVar		 PMID:2809732 PMID:23806086 PMID:24088041 PMID:25687216 PMID:25741868 More... NCBI chr 3:135,522,644...135,594,333
Ensembl chr 3:135,531,040...135,594,333 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:25741868 PMID:26833332 PMID:28492532 PMID:29759592 More... NCBI chr 1:34,475,751...34,478,753
Ensembl chr 1:34,475,751...34,478,753 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19067230 PMID:25741868 PMID:26639818 PMID:26833330 PMID:28492532 More... NCBI chr11:78,397,881...78,402,994
Ensembl chr11:78,397,881...78,402,998 		JBrowse link
congenital disorder of glycosylation type IIq term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310022B05Rik RIKEN cDNA 2310022B05 gene ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr 8:125,362,495...125,390,108
Ensembl chr 8:125,362,495...125,390,108 		JBrowse link
G 2810004N23Rik RIKEN cDNA 2810004N23 gene ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr 8:125,566,094...125,589,768
Ensembl chr 8:125,563,684...125,589,859 		JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq ClinVar PMID:24784932 PMID:28492532 PMID:32293671 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		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 chr 8:125,448,765...125,469,533
Ensembl chr 8:125,448,878...125,460,862 		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 chr 8:125,301,361...125,345,470
Ensembl chr 8:125,302,850...125,345,470 		JBrowse link
G Cog2 component of oligomeric golgi complex 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:24784932 PMID:25741868 PMID:28492532 More... NCBI chr 8:125,247,506...125,278,747
Ensembl chr 8:125,247,506...125,278,747 		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 chr 8:125,466,996...125,478,605
Ensembl chr 8:125,466,996...125,478,571 		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 chr 8:124,958,133...125,072,461
Ensembl chr 8:124,958,130...125,072,463 		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 chr 8:125,589,772...125,616,796
Ensembl chr 8:125,589,772...125,616,796 		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 chr 8:125,095,788...125,161,230
Ensembl chr 8:125,095,788...125,166,397 		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 chr 8:125,519,758...125,561,443
Ensembl chr 8:125,519,831...125,561,452 		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 chr 8:125,398,066...125,448,748
Ensembl chr 8:125,398,071...125,448,722 		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, lysosomal 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:12,453,998...12,483,290
Ensembl chr  X:12,454,040...12,483,288 		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 chr 8:124,958,133...125,072,461
Ensembl chr 8:124,958,130...125,072,463 		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 enhancer, mannosidase alpha-like 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v OMIM
ClinVar		 PMID:25741868 PMID:34143952 NCBI chr 1:151,631,099...151,698,079
Ensembl chr 1:151,631,122...151,697,802 		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 (glucose-6-phosphate transporter), 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 9:44,308,243...44,314,263
Ensembl chr 9:44,308,149...44,314,265 		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 golgi to ER traffic protein 4 ISO ClinVar Annotator: match by term: CDG IIy OMIM
ClinVar		 PMID:25741868 PMID:32395830 NCBI chr 5:139,237,303...139,255,806
Ensembl chr 5:139,238,079...139,255,806 		JBrowse link
Congenital Disorder of Glycosylation Type IIz term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Caml calcium modulating ligand ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIz OMIM
ClinVar		 PMID:35262690 NCBI chr13:55,770,818...55,780,229
Ensembl chr13:55,770,818...55,780,224 		JBrowse link
immunodeficiency 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 47
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27231034 PMID:28492532 PMID:28688840 PMID:29192153 More... NCBI chr  X:73,340,753...73,348,297
Ensembl chr  X:73,340,703...73,348,327 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    physical disorder 5001
      congenital disorder of glycosylation 540
        congenital disorder of glycosylation type II 238
          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 3
          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 4
          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 1
          congenital disorder of glycosylation type IIo 1
          congenital disorder of glycosylation type IIp 1
          congenital disorder of glycosylation type IIq 12
          immunodeficiency 47 1
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          inherited metabolic disorder 5665
            carbohydrate metabolic disorder 2813
              congenital disorder of glycosylation 540
                congenital disorder of glycosylation type II 238
                  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 3
                  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 4
                  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 1
                  congenital disorder of glycosylation type IIo 1
                  congenital disorder of glycosylation type IIp 1
                  congenital disorder of glycosylation type IIq 12
                  immunodeficiency 47 1
paths to the root