congenital disorder of glycosylation - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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	go back to main search page
Accession:	DOID:5212	browse the term
Definition:	A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. (DO)
Synonyms:	exact_synonym:	carbohydrate-deficient glycoprotein syndrome; carbohydrate-deficient glycoprotein syndromes; congenital disorders of glycosylation
	narrow_synonym:	Abnormal protein O-linked glycosylation
	primary_id:	MESH:D018981
	xref:	GARD:10307; HP:0012358; NCI:C84615; ORDO:137
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (540) Mouse (541) Human (13499) Chinchilla (521) Bonobo (542) Dog (539) Squirrel (521) Pig (532) Green Monkey (532) Naked Mole-rat (518) All
Genes (539) Strains (1)

congenital disorder of glycosylation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:2296603 PMID:9536098 PMID:14709599 PMID:14973778 PMID:14973782 More...

NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750

G

ALG11, alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601

G

ALG12, alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458

G

ALG13, UDP-N-acetylglucosaminyltransferase subunit

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:32681751 PMID:33734437

NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695

G

ALG2, alpha-1,3/1,6-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297

G

ALG3, alpha-1,3- mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912

G

ALG6, alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439

G

ALG8, alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302

G

ALG9, alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636

G

beta-1,4-galactosyltransferase 1

susceptibility

ClinVar Annotator: match by term: Congenital disorder of glycosylation
DNA:insertion: ;1031insC

PMID:11901181 PMID:25741868 PMID:28492532 PMID:11901181

RGD:1599432, RGD:1599432

NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461

G

C1GALT1-specific chaperone 1

ClinVar Annotator: match by term: Abnormal protein O-linked glycosylation

PMID:25741868 PMID:37216524

NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787

G

component of oligomeric golgi complex 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292

G

component of oligomeric golgi complex 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009

G

component of oligomeric golgi complex 6

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190

G

component of oligomeric golgi complex 7

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr 1:176,489,795...176,549,455
Ensembl chr 1:176,489,791...176,549,455

G

component of oligomeric golgi complex 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397

G

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:25741868 PMID:28492532

NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413

G

dynein, axonemal, assembly factor 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199

G

dolichol kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:12872255 PMID:18414213 PMID:22304930 PMID:22742743 PMID:23806237 More...

NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087

G

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:25741868 PMID:28492532

NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536

G

dihydrouridine synthase 4-like

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449

G

eukaryotic elongation factor 2 lysine methyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:20679665 PMID:24157261 PMID:26931382 PMID:28492532 PMID:34567092

NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957

G

magnesium transporter 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:24550228 PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665

NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699

G

mannosidase, alpha, class 2B, member 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr14:73,969,079...73,994,089
Ensembl chr14:73,969,003...74,004,281

G

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177

G

mannose-P-dolichol utilization defect 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150

G

maestro heat-like repeat family member 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319

G

nucleoporin 188

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307

G

NUS1 dehydrodolichyl diphosphate synthase subunit

ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:25066056 PMID:25741868 PMID:28492532 PMID:34532305 PMID:36672771

NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561

G

peptide deformylase (mitochondrial)

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515

G

phosphoglucomutase 1

ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:25741868 PMID:28492532

NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728

G

PTEN induced kinase 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:25741868 PMID:28492532

NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635

G

phosphomannomutase 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More...

RGD:1599134, RGD:1599132

NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098

G

arginyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276

G

RFT1 homolog

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120

G

ribophorin II

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543

G

solute carrier family 35 member A1

ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 5:49,225,599...49,248,382
Ensembl chr 5:49,225,602...49,248,335

G

solute carrier family 35 member A2

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678

G

solute carrier family 35 member C1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520

G

solute carrier family 37 member 4

ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:3728255 PMID:25741868 PMID:32884905 PMID:33728255 PMID:33964207

NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301

G

steroid 5 alpha-reductase 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:9536098 PMID:17576681 PMID:20637498 PMID:20700148 PMID:20852264 More...

NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747

G

signal sequence receptor subunit 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 2:149,605,005...149,625,069
Ensembl chr 2:149,605,005...149,625,132

G

transmembrane protein 165

ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:25741868 PMID:28492532

NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717

G

tumor suppressor candidate 3

ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation

PMID:25741868 PMID:28492532 PMID:28820871

NCBI chr16:53,196,195...53,345,241
Ensembl chr16:53,196,195...53,344,781

alacrima, achalasia, and impaired intellectual development syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angio-associated, migratory cell protein

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547

G

ATP binding cassette subfamily B member 6

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469

G

actin related protein 2/3 complex, subunit 2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471

G

acid sensing ion channel subunit family member 4

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900

G

autophagy related 9A

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938

G

ciliogenesis associated TTC17 interacting protein

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607

G

cyclin-dependent kinase 5 regulatory subunit 2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344

G

cilia and flagella associated protein 65

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128

G

chondroitin polymerizing factor

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878

G

CCR4-NOT transcription complex subunit 9

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100

G

cyclin Pas1/PHO80 domain containing 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188

G

crystallin, beta A2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460

G

CTD small phosphatase 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297

G

C-X-C motif chemokine receptor 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084

G

C-X-C motif chemokine receptor 2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

cytochrome P450, family 27, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

G

desmin

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

DnaJ heat shock protein family (Hsp40) member B2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277

G

aspartyl aminopeptidase

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716

G

FEV transcription factor, ETS family member

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065

G

galactosidase, beta 1-like

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510

G

GDP-mannose pyrophosphorylase A

OMIM:615510
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

OMIM
MouseDO
CTD
ClinVar

PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478

NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269

G

G protein-coupled bile acid receptor 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168

G

Indian hedgehog signaling molecule

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532

G

microRNA 26b

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680

G

microRNA 375

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985

G

nonhomologous end-joining factor 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560

G

phospholipase C, delta 4

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453

G

PNKD metallo-beta-lactamase domain containing

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124

G

protein kinase AMP-activated non-catalytic subunit gamma 3

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959

G

protein tyrosine phosphatase, receptor type, N

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190

G

regulated endocrine-specific protein 18

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722

G

reticulophagy regulator family member 2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395

G

ring finger protein 25

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849

G

solute carrier family 11 member 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 23, member 3

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366

G

striated muscle enriched protein kinase

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144

G

serine/threonine kinase 16

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855

G

serine/threonine kinase 36

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422

G

transmembrane BAX inhibitor motif containing 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069

G

transmembrane protein 198

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011

G

tubulin tyrosine ligase like 4

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301

G

tubulin, alpha 4A

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918

G

ubiquitin specific peptidase 37

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044

G

villin 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858

G

Wnt family member 10A

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400

G

Wnt family member 6

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523

G

zinc finger AN1-type containing 2B

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445

G

zinc finger protein 142

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856

congenital disorder of glycosylation Ia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

4-aminobutyrate aminotransferase

ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation

NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835

G

insulin-like growth factor 1

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 2

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like growth factor binding protein, acid labile subunit

RGD

NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

phosphomannomutase 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia | ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation | ClinVar Annotator: match by term: Phosphomannomutase 2 deficiency
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9140401 PMID:9497260 PMID:9536098 PMID:9710598 PMID:9781039 More...

NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098

G

transmembrane protein 186

ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation

NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256

congenital disorder of glycosylation Iaa

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-silencing function 1A histone chaperone

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808

G

calcium homeostasis modulator family member 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:25,990,164...25,993,173
Ensembl chr20:25,990,462...25,993,173

G

calcium homeostasis modulator family member 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:26,066,270...26,072,348
Ensembl chr20:26,066,242...26,072,272

G

calcium homeostasis modulator family member 6

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:26,095,591...26,097,336
Ensembl chr20:26,095,592...26,097,278

G

centrosomal protein 85-like

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516

G

collagen type X alpha 1 chain

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494

G

discoidin, CUB and LCCL domain containing 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692

G

dermatan sulfate epimerase

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992

G

golgi associated PDZ and coiled-coil motif containing

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:31,727,617...31,776,904
Ensembl chr20:31,727,620...31,776,903

G

G protein-coupled receptor, class C, group 6, member A

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412

G

karyopherin subunit alpha 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078

G

minichromosome maintenance 9 homologous recombination repair factor

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600

G

5'-nucleotidase domain containing 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591

G

NUS1 dehydrodolichyl diphosphate synthase subunit

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25066056 PMID:25741868 More...

NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561

G

phospholamban

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:32,629,537...32,639,559

G

regulatory factor X, 6

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147

G

ROS proto-oncogene 1 , receptor tyrosine kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865

G

radial spoke head component 4A

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574

G

RWD domain containing 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:25,949,723...25,967,147
Ensembl chr20:25,941,966...25,967,193

G

solute carrier family 35, member F1

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611

G

trafficking protein particle complex subunit 3L

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:25,992,835...26,084,938
Ensembl chr20:25,967,502...26,078,989

G

TSPY-like 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554

G

TSPY-like 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:38,098,756...38,100,752
Ensembl chr20:38,098,677...38,103,053

G

vestigial-like family member 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:31,409,529...31,415,408
Ensembl chr20:31,409,552...31,415,408

G

zinc finger containing ubiquitin peptidase 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306

congenital disorder of glycosylation Ib

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

family with sequence similarity 219, member B

ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome

NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906

G

mannose phosphate isomerase

ClinVar Annotator: match by term: CDG Ib | ClinVar Annotator: match by term: CDG gastrointestinal type | ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type 1B | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B | ClinVar Annotator: match by term: MPI deficiency | ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:3080572 PMID:9525984 PMID:9536098 PMID:9585601 PMID:10484808 More...

NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150

congenital disorder of glycosylation Ic

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG6, alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V | ClinVar Annotator: match by term: CDG Ic | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ic
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:10359825 PMID:10852543 PMID:10914684 PMID:10924277 More...

NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439

congenital disorder of glycosylation Icc

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

magnesium transporter 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC

PMID:24550228 PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665

NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699

congenital disorder of glycosylation Id

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253

G

ATP binding cassette subfamily F member 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,340,476...80,352,211
Ensembl chr11:80,339,977...80,352,211

G

ALG3, alpha-1,3- mannosyltransferase

ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8552211 PMID:10581255 PMID:11181649 PMID:12357336 PMID:15108280 More...

NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912

G

adaptor related protein complex 2 subunit mu 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:81,141,102...81,153,206
Ensembl chr11:81,140,599...81,156,166

G

calcium/calmodulin-dependent protein kinase II inhibitor 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,289,702...80,290,829

G

chloride voltage-gated channel 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657

G

dishevelled segment polarity protein 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462

G

endothelin-converting enzyme 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,259,130...80,278,446
Ensembl chr11:80,263,162...80,278,428

G

EEF1A lysine methyltransferase 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

NCBI chr11:80,292,113...80,299,670
Ensembl chr11:80,291,978...80,299,659

G

eukaryotic translation initiation factor 2B subunit epsilon

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419

G

eukaryotic translation initiation factor 4 gamma 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941

G

family with sequence similarity 131, member A

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,211,577...80,221,527
Ensembl chr11:80,211,745...80,221,511

G

kelch-like family member 24

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636

G

kelch-like family member 6

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677

G

lysosomal-associated membrane protein 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:81,153,491...81,224,643
Ensembl chr11:81,193,649...81,221,784

G

MAP6 domain containing 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,734,148...80,740,377
Ensembl chr11:80,734,148...80,740,377

G

methylcrotonyl-CoA carboxylase subunit 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222

G

microRNA 1224

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:25741868 PMID:28492532

NCBI chr11:80,306,902...80,306,986
Ensembl chr11:80,306,902...80,306,986

G

presenilin associated, rhomboid-like

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506

G

RNA polymerase II, I and III subunit H

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,192,017...80,197,468
Ensembl chr11:80,192,032...80,197,515
Ensembl chr10:80,192,032...80,197,515

G

proteasome 26S subunit ubiquitin receptor, non-ATPase 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,248,364...80,258,991
Ensembl chr11:80,248,364...80,259,043

G

thrombopoietin

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

Ensembl chr11:80,182,820...80,188,167

G

von Willebrand factor A domain containing 5B2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:25741868 PMID:28492532

NCBI chr11:80,306,067...80,323,220
Ensembl chr11:80,306,350...80,323,220

G

YEATS domain containing 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D

PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532

NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208

congenital disorder of glycosylation Ie

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activity-dependent neuroprotector homeobox

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E

PMID:10642597 PMID:10642602 PMID:28492532

NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312

G

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

ClinVar Annotator: match by term: CDG Ie | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:15771971 More...

NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536

G

molybdenum cofactor synthesis 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E

PMID:10642597 PMID:10642602 PMID:28492532

NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890

congenital disorder of glycosylation If

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mannose-P-dolichol utilization defect 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F

OMIM
CTD
ClinVar

PMID:11733556 PMID:11733564 PMID:16199547 PMID:25741868 PMID:25954003 More...

NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447

G

SRY-box transcription factor 15

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F

NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591

congenital disorder of glycosylation Ig

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin 2

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331

G

ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:2296603 PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 More...

NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750

G

ALG12, alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation | ClinVar Annotator: match by term: CDG Ig | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ig
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:11983712 PMID:12093361 PMID:12217961 PMID:12736397 More...

NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458

G

adaptor related protein complex 4 subunit epsilon 1

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:23472171 PMID:25741868 PMID:32979048

NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752

G

arylsulfatase A

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783

G

bromodomain containing 1

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031

G

choline kinase beta

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461

G

ciliary microtubule associated protein 1B

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749

G

carnitine palmitoyltransferase 1B

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404

G

cysteine-rich with EGF-like domains 2

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543

G

DENN domain containing 6B

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494

G

histone deacetylase 10

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228

G

kelch domain containing 7B

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,452,081...120,455,737
Ensembl chr 7:120,453,932...120,455,737

G

lipase maturation factor 2

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823

G

mitogen-activated protein kinase 11

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395

G

mitogen-activated protein kinase 12

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664

G

mitogen-activated protein kinase 8 interacting protein 2

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982

G

myo-inositol oxygenase

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537

G

modulator of VRAC current 1

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049

G

Mov10 like RNA helicase 1

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765

G

non-SMC condensin II complex, subunit H2

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938

G

pannexin 2

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361

G

Pim-3 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587

G

plexin B2

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330

G

protein phosphatase 6, regulatory subunit 2

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395

G

SET binding factor 1

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902

G

selenoprotein O

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805

G

synaptonemal complex central element protein 3

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973

G

TraB domain containing

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015

G

tubulin tyrosine ligase like 8

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075

G

tubulin gamma complex component 6

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011

G

thymidine phosphorylase

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

G

zinc finger, BED-type containing 4

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899

congenital disorder of glycosylation Ih

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG8, alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:12480927 PMID:15235028 PMID:16199547 PMID:17576681 More...

NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302

congenital disorder of glycosylation Ii

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG2, alpha-1,3/1,6-mannosyltransferase

ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II

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

G

ankyrin repeat and sterile alpha motif domain containing 6

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596

G

acidic nuclear phosphoprotein 32 family member B

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,743,077...60,765,726
Ensembl chr 5:60,743,443...60,765,717

G

coiled-coil domain containing 115

ClinVar Annotator: match by term: Congenital disorders of glycosylation type II

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

G

collagen type XV alpha 1 chain

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591

G

coronin 2A

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035

G

dicer 1 ribonuclease III

ClinVar Annotator: match by term: Congenital disorders of glycosylation type II

PMID:19556464 PMID:25741868 PMID:26833330 PMID:26925222 PMID:30339877

NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965

G

endoplasmic reticulum protein 44

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761

G

forkhead box E1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835

G

gamma-aminobutyric acid type B receptor subunit 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104

G

polypeptide N-acetylgalactosaminyltransferase 12

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354

G

hemogen

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669

G

inversin

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350

G

N-acetylneuraminate synthase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950

G

nuclear cap binding protein subunit 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089

G

nuclear receptor subfamily 4, group A, member 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733

G

SEC61 translocon subunit beta

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:61,773,594...61,781,804
Ensembl chr 5:61,773,594...61,781,804

G

syntaxin 17

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451

G

TBC1 domain family, member 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,884,114...60,931,717
Ensembl chr 5:60,884,124...60,931,352

G

tudor domain containing 7

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544

G

transforming growth factor, beta receptor 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

G

transmembrane protein 199

ClinVar Annotator: match by term: Congenital disorders of glycosylation type II

PMID:25741868 PMID:26833330 PMID:28492532 PMID:29321044

NCBI chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108

G

tropomodulin 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956

G

tripartite motif-containing 14

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858

G

tRNA methyltransferase O

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423

G

thiosulfate sulfurtransferase like domain containing 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916

G

XPA, DNA damage recognition and repair factor

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I

PMID:20813212 PMID:28492532

NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726

congenital disorder of glycosylation Ij

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J

PMID:22742743 PMID:28492532

NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881

G

C2CD2-like

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J

PMID:22742743 PMID:28492532

NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J

PMID:22742743 PMID:28492532

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More...

NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087

G

dynein regulatory complex subunit 12 homolog

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J

PMID:22742743 PMID:28492532

NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338

G

histone H4 transcription factor

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J

PMID:22742743 PMID:28492532

NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957

G

NHERF family PDZ scaffold protein 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J

PMID:22742743 PMID:28492532

NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860

G

NLR family member X1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J

PMID:22742743 PMID:28492532

NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484

congenital disorder of glycosylation Ik

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase

ClinVar Annotator: match by term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2296603 PMID:9536098 PMID:14709599 PMID:14973778 PMID:14973782 More...

NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750

G

eukaryotic elongation factor 2 lysine methyltransferase

ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K

PMID:9536098 PMID:14709599 PMID:14973782 PMID:17576681 PMID:20679665 More...

NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039

congenital disorder of glycosylation Il

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG9, alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CDG Il | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:15148656 PMID:15945070 PMID:16199547 PMID:17576681 More...

NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261

G

ATPase H+ transporting V0 subunit a2

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il

PMID:9536098 PMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 More...

NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069

G

similar to human chromosome 11 open reading frame 52

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation

PMID:25966638 PMID:28492532

NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533

G

cilia and flagella associated protein 68

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation

PMID:25966638 PMID:28492532

NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420

G

crystallin, alpha B

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation

PMID:25966638 PMID:28492532

NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157

G

DIX domain containing 1

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation

PMID:25966638 PMID:28492532

NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090

G

dihydrolipoamide S-acetyltransferase

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation

PMID:25966638 PMID:28492532

NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479

G

ferredoxin-fold anticodon binding domain containing 1

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation

PMID:25966638 PMID:28492532

NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308

G

heat shock protein family B (small) member 2

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation

PMID:25966638 PMID:28492532

NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533

G

tectonic family member 2

ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation

NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069

congenital disorder of glycosylation Im

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dolichol kinase

ClinVar Annotator: match by term: CDG Im | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY | ClinVar Annotator: match by term: DOLK-congenital disorder of glycosylation
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17273964 PMID:22242004 PMID:23806237 PMID:23890587 PMID:24033266 More...

NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917

G

nucleoporin 188

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M

NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307

congenital disorder of glycosylation In

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5'-aminolevulinate synthase 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

dynein, axonemal, heavy chain 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350

G

glycosyltransferase 8 domain containing 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229

G

glycerate kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397

G

G protein nucleolar 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,207,402...6,213,491
Ensembl chr16:6,207,402...6,213,392

G

inter-alpha trypsin inhibitor, heavy chain 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,122,246...6,136,363
Ensembl chr16:6,122,248...6,136,363

G

inter-alpha trypsin inhibitor, heavy chain 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,101,922...6,117,154
Ensembl chr16:6,101,930...6,116,924

G

inter-alpha-trypsin inhibitor heavy chain 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708

G

microRNA let-7g

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr 8:106,822,293...106,822,380
Ensembl chr 8:106,822,280...106,822,388

G

musculoskeletal, embryonic nuclear protein 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,072,908...6,075,161
Ensembl chr16:6,072,833...6,075,161

G

NIMA-related kinase 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,144,900...6,185,376
Ensembl chr16:6,144,959...6,188,932

G

nischarin

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,364,370...6,400,675
Ensembl chr16:6,364,374...6,400,668

G

5'-nucleotidase domain containing 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,322,485...6,330,538
Ensembl chr16:6,322,236...6,330,537

G

polybromo 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780

G

PHD finger protein 7

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,433,535...6,446,314
Ensembl chr16:6,433,537...6,446,911

G

POC1 centriolar protein A

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089

G

protein phosphatase, Mg2+/Mn2+ dependent, 1M

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr 8:106,836,221...106,843,472
Ensembl chr 8:106,837,037...106,842,057

G

RFT1 homolog

ClinVar Annotator: match by term: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313027 PMID:19267216 More...

NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120

G

semaphorin 3G

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,413,589...6,425,221
Ensembl chr16:6,413,589...6,425,221

G

Scm-like with four mbt domains 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:5,889,046...6,009,860
Ensembl chr16:5,890,782...6,006,605

G

signal peptidase complex subunit 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000

G

stabilin 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,330,435...6,360,934
Ensembl chr16:6,330,444...6,360,923

G

STIM activating enhancer

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,013,392...6,070,829
Ensembl chr16:6,013,369...6,071,816

G

toll-like receptor 9

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

troponin C1, slow skeletal and cardiac type

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634

G

twinfilin actin-binding protein 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr 8:106,845,253...106,858,298
Ensembl chr 8:106,845,253...106,858,298

G

ubiquinol-cytochrome c reductase complex assembly factor 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr16:6,316,631...6,320,471
Ensembl chr16:6,286,300...6,320,642

G

WD repeat domain 82

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N

NCBI chr 8:106,814,569...106,834,535
Ensembl chr 8:106,814,569...106,834,438

congenital disorder of glycosylation Ip

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG11, alpha-1,2-mannosyltransferase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALG11-congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P

OMIM
CTD
ClinVar

PMID:10441329 PMID:16283883 PMID:20080937 PMID:22213132 PMID:25741868 More...

NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601

G

ATPase copper transporting beta

ClinVar Annotator: match by term: ALG11-congenital disorder of glycosylation

PMID:10441329 PMID:16283883 PMID:25741868 PMID:28492532 PMID:30676690

NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636

congenital disorder of glycosylation Iq

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

steroid 5 alpha-reductase 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q

OMIM
CTD
ClinVar

PMID:9536098 PMID:17576681 PMID:20637498 PMID:20700148 PMID:20852264 More...

NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747

congenital disorder of glycosylation Ir

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 7, member A2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909

G

aldo-keto reductase family 7 member A3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394

G

aldehyde dehydrogenase 4 family, member A1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345

G

alkaline phosphatase, biomineralization associated

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446

G

complement C1q A chain

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534

G

complement C1q B chain

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407

G

complement C1q C chain

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017

G

calcium/calmodulin-dependent protein kinase II inhibitor 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600

G

capping actin protein of muscle Z-line subunit beta

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409

G

cytidine deaminase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231

G

cell division cycle 42

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111

G

chymotrypsin like elastase 3B

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937

G

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar Annotator: match by term: DDOST-congenital disorder of glycosylation

OMIM
CTD
ClinVar

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22305527 PMID:25741868 More...

NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413

G

endothelin converting enzyme 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371

G

eukaryotic translation initiation factor 4 gamma, 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,197,410...150,418,862
Ensembl chr 5:150,195,226...150,418,363

G

ER membrane protein complex subunit 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888

G

Eph receptor A8

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399

G

family with sequence similarity 43, member B

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,610,656...150,613,054
Ensembl chr 5:150,611,609...150,612,601

G

heterochromatin protein 1, binding protein 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,435,781...150,463,004
Ensembl chr 5:150,433,740...150,463,000

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594

G

5-hydroxytryptamine receptor 6

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912

G

intermediate filament family orphan 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345

G

kinesin family member 17

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,482,288...150,521,471
Ensembl chr 5:150,481,578...150,519,638

G

low density lipoprotein receptor class A domain containing 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140

G

mitochondrial contact site and cristae organizing system subunit 10

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485

G

MRT4 homolog, ribosome maturation factor

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287

G

mitochondrial E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,652,812...150,661,863
Ensembl chr 5:150,652,812...150,661,863

G

NBL1, DAN family BMP antagonist

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719

G

OTU deubiquitinase 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560

G

PTEN induced kinase 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar Annotator: match by term: DDOST-congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635

G

phospholipase A2 group IIA

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014

G

phospholipase A2, group IIC

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377

G

phospholipase A2, group IID

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525

G

phospholipase A2, group IIE

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821

G

phospholipase A2, group IIF

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175

G

phospholipase A2, group V

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658

G

Rap1 GTPase-activating protein

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253

G

ring finger protein 186

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716

G

SH2 domain containing 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,469,738...150,480,615
Ensembl chr 5:150,467,728...150,479,955

G

solute carrier family 66 member 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259

G

transmembrane and coiled-coil domains 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723

G

ubiquitin protein ligase E3 component n-recognin 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784

G

UBX domain protein 10

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744

G

ubiquitin specific peptidase 48

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719

G

von Willebrand factor A domain containing 5B1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:150,792,959...150,864,849
Ensembl chr 5:150,797,322...150,852,518

G

Wnt family member 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859

G

zinc finger and BTB domain containing 40

ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir

NCBI chr 5:149,216,496...149,283,746
Ensembl chr 5:149,219,677...149,254,415

congenital disorder of glycosylation It

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoglucomutase 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19625727 PMID:22492991 More...

NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728

congenital disorder of glycosylation Iu

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate kinase 1

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041

G

bublin coiled coil protein

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,674,577...15,677,322
Ensembl chr 3:15,674,580...15,677,374

G

cyclin-dependent kinase 9

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410

G

cilia and flagella associated protein 157

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495

G

CDKN1A interacting zinc finger protein 1

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762

G

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

OMIM
CTD
ClinVar

PMID:9536098 PMID:17576681 PMID:18414213 PMID:19901254 PMID:23109149 More...

NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165
Ensembl chr 3:15,856,182...15,869,165

G

estrogen-induced osteoclastogenesis regulator 1

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,822,441...15,854,651
Ensembl chr 3:15,823,144...15,854,643

G

endoglin

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

folylpolyglutamate synthase

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563

G

lipocalin 2

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095

G

leucine rich repeat and sterile alpha motif containing 1

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154

G

nuclear apoptosis inducing factor 1

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,741,239...15,747,672
Ensembl chr 3:15,742,919...15,747,669

G

niban apoptosis regulator 2

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293

G

phosphatidylinositol-4-phosphate 5-kinase-like 1

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165

G

prostaglandin E synthase 2

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688

G

peptidyl-tRNA hydrolase 1 homolog

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648

G

SH2 domain containing 3C

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484

G

solute carrier family 25 member 25

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216

G

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243

G

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:15,885,968...15,907,496

G

syntaxin binding protein 1

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369

G

torsin family 2, member A

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:16,048,591...16,053,198
Ensembl chr 3:16,048,549...16,052,634

G

tetratricopeptide repeat domain 16

ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u

PMID:23109149 PMID:28492532

NCBI chr 3:16,052,567...16,064,598
Ensembl chr 3:16,048,565...16,064,547

congenital disorder of glycosylation Iw

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 D

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant

NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215

G

STT3 oligosaccharyltransferase complex catalytic subunit A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant

OMIM
CTD
ClinVar

PMID:23842455 PMID:25741868 PMID:28424003 PMID:28492532 PMID:34653363

NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293

congenital disorder of glycosylation Ix

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STT3 oligosaccharyltransferase complex catalytic subunit B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x

OMIM
CTD
ClinVar

PMID:9536098 PMID:17576681 PMID:23842455 PMID:25741868 PMID:28492532 More...

NCBI chr 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028

congenital disorder of glycosylation Iy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y

NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171

G

plexin B3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y

NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674

G

SRSF protein kinase 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y

NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198

G

signal sequence receptor subunit 4

ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460

NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202

Congenital Disorder of Glycosylation Type 1O

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dolichyl-phosphate mannosyltransferase subunit 3, regulatory

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15

OMIM
CTD
ClinVar

PMID:19576565 PMID:25741868 PMID:28492532 PMID:28803818 PMID:29246662 More...

NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668

congenital disorder of glycosylation type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type I

PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26931382 More...

NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750

G

phosphomannomutase 2

OMIM:212065 | OMIM:300884 | OMIM:300934 | OMIM:601110 | OMIM:602579 | OMIM:603147 | OMIM:607143 | OMIM:607906 | OMIM:608093 | OMIM:608104 | OMIM:608540 | OMIM:608776 | OMIM:608799 | OMIM:609180 | OMIM:610768 | OMIM:612015 | OMIM:612379 | OMIM:612937 | OMIM:613661 | OMIM:614507 | OMIM:614921 | OMIM:615042 | OMIM:615596 | OMIM:615597 | OMIM:616457
ClinVar Annotator: match by term: Congenital disorder of glycosylation type I

MouseDO
ClinVar

PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More...

NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098

congenital disorder of glycosylation type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG2, alpha-1,3/1,6-mannosyltransferase

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

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

G

ankyrin repeat and sterile alpha motif domain containing 6

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596

G

acidic nuclear phosphoprotein 32 family member B

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,743,077...60,765,726
Ensembl chr 5:60,743,443...60,765,717

G

collagen type XV alpha 1 chain

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:61,501,963...61,607,591
Ensembl chr 5:61,501,963...61,607,591

G

coronin 2A

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035

G

endoplasmic reticulum protein 44

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:62,516,550...62,610,762
Ensembl chr 5:62,516,551...62,610,761

G

forkhead box E1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835

G

gamma-aminobutyric acid type B receptor subunit 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104

G

polypeptide N-acetylgalactosaminyltransferase 12

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354

G

hemogen

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669

G

inversin

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350

G

N-acetylneuraminate synthase

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950

G

nuclear cap binding protein subunit 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089

G

nuclear receptor subfamily 4, group A, member 3

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733

G

SEC61 translocon subunit beta

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:61,773,594...61,781,804
Ensembl chr 5:61,773,594...61,781,804

G

syntaxin 17

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451

G

TBC1 domain family, member 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,884,114...60,931,717
Ensembl chr 5:60,884,124...60,931,352

G

tudor domain containing 7

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544

G

transforming growth factor, beta receptor 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

G

tropomodulin 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,316,445...60,393,957
Ensembl chr 5:60,338,512...60,393,956

G

tripartite motif-containing 14

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858

G

tRNA methyltransferase O

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423

G

thiosulfate sulfurtransferase like domain containing 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916

G

XPA, DNA damage recognition and repair factor

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726

congenital disorder of glycosylation type IIa

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, assembly factor 2

ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa

NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199

G

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

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

Congenital Disorder of Glycosylation Type IIaa

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

syntaxin 5

NCBI chr 1:205,637,401...205,653,563
Ensembl chr 1:205,637,413...205,653,563

congenital disorder of glycosylation type IIb

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin gamma 2, smooth muscle

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

ALMS1, centrosome and basal body associated protein

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

AUP1, lipid droplet regulating VLDL assembly factor

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

bolA family member 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

similar to human chromosome 2 open reading frame 78

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

similar to human chromosome 2 open reading frame 81

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

coiled-coil domain containing 142

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

chaperonin containing TCP1 subunit 7

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

cytochrome P450, family 26, subfamily b, polypeptide 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

dynactin subunit 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

deoxyguanosine kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

docking protein 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

DEAQ box RNA-dependent ATPase 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

dual specificity phosphatase 11

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

early growth response 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

empty spiracles homeobox 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

exocyst complex component 6B

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

F-box protein 41

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

HtrA serine peptidase 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

INO80 complex subunit B

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

ladybird homeobox 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

lysyl oxidase-like 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

MOB kinase activator 1A

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

mannosyl-oligosaccharide glucosidase

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

G

mitochondrial ribosomal protein L53

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More...

NCBI chr 4:115,615,329...115,616,219

G

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

N-acetyltransferase 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

N-acetyltransferase 8B

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

notochord homeobox

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

polycomb group ring finger 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

protease-associated domain containing 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

RAB11 family interacting protein 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

rhotekin

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

sideroflexin 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

solute carrier family 4 member 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

SMYD family member 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

sepiapterin reductase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

Stam binding protein

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

T-cell leukemia homeobox 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

Tp53rk binding protein

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

WW domain binding protein 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

G

WD repeat domain 54

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B

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

Congenital Disorder of Glycosylation Type IIbb

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of oligomeric golgi complex 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIbb

NCBI chr15:51,020,808...51,071,288
Ensembl chr15:51,020,813...51,070,570

congenital disorder of glycosylation type IIc

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 2, lysosomal

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680

G

AGBL carboxypeptidase 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:76,764,893...76,800,071
Ensembl chr 3:76,764,238...76,800,214

G

autophagy and beclin 1 regulator 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221

G

ADP-ribosylation factor GTPase activating protein 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455

G

Rho GTPase activating protein 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,621,377...77,643,400
Ensembl chr 3:77,620,655...77,643,396

G

autophagy related 13

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,647,069...77,681,028
Ensembl chr 3:77,645,790...77,681,043

G

C1q and TNF related 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:76,854,368...76,872,991
Ensembl chr 3:76,857,735...76,874,139

G

CUGBP, Elav-like family member 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:76,924,591...76,999,429
Ensembl chr 3:76,924,613...76,999,426

G

cholinergic receptor, muscarinic 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159

G

cytoskeleton associated protein 5

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,491,195...77,593,300
Ensembl chr 3:77,491,276...77,593,264

G

cAMP responsive element binding protein 3-like 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456

G

cryptochrome circadian regulator 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965

G

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274

G

damage specific DNA binding protein 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631

G

diacylglycerol kinase zeta

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099

G

coagulation factor II, thrombin

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

family with sequence similarity 180 member B

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

G

formin binding protein 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:76,733,012...76,763,077
Ensembl chr 3:76,733,027...76,763,079

G

Frey regulator of sperm-oocyte fusion 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055

G

harbinger transposase derived 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,681,431...77,689,749
Ensembl chr 3:77,681,431...77,689,724

G

kelch repeat and BTB domain containing 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:76,883,671...76,889,769
Ensembl chr 3:76,883,014...76,890,799

G

LARGE xylosyl- and glucuronyltransferase 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184

G

LDL receptor related protein 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593

G

MAP-kinase activating death domain

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701

G

mitogen-activated protein kinase 8 interacting protein 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884

G

midkine

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130

G

mitochondrial carrier 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:76,830,549...76,850,189
Ensembl chr 3:76,830,413...76,850,189

G

myosin binding protein C3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

NADH:ubiquinone oxidoreductase core subunit S3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824

G

nuclear receptor subfamily 1, group H, member 3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

nucleoporin 160

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565

G

protein kinase C and casein kinase substrate in neurons 3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811

G

peroxisomal biogenesis factor 16

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207

G

PHD finger protein 21A

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865

G

proteasome 26S subunit, ATPase 3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358

G

protein tyrosine phosphatase, mitochondrial 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:76,889,922...76,899,427
Ensembl chr 3:76,889,922...76,899,427

G

receptor-associated protein of the synapse

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373

G

solute carrier family 35 member C1

DNA:missense mutations:cds:p.R147C, p.T308R (human)
ClinVar Annotator: match by term: CDG IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome
OMIM:266265
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:1279426 PMID:9536098 PMID:11213799 PMID:11326279 PMID:11326280 More...

NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226

G

Spi-1 proto-oncogene

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393

G

zinc finger protein 408

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr 3:77,615,595...77,621,325

congenital disorder of glycosylation type IId

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,4-galactosyltransferase 1

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 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461

congenital disorder of glycosylation type IIe

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 290

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

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

G

component of oligomeric golgi complex 7

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

G

glutamyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836

G

golgi associated, gamma adaptin ear containing, ARF binding protein 2

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361

G

NADH:ubiquinone oxidoreductase subunit AB1

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 1:176,644,696...176,658,131
Ensembl chr 1:176,644,703...176,658,099

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

G

sodium channel epithelial 1 subunit beta

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451

G

sodium channel epithelial 1 subunit gamma

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816

G

ubiquitin family domain containing 1

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 1:176,626,003...176,640,993
Ensembl chr 1:176,625,657...176,640,993

congenital disorder of glycosylation type IIf

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arginyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: SLC35A1-CDG

PMID:24033266 PMID:28492532

NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276

G

solute carrier family 35 member A1

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

congenital disorder of glycosylation type IIg

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of oligomeric golgi complex 1

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

G

VCP nuclear cofactor family member 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G

PMID:25741868 PMID:28492532

NCBI chr10:98,707,404...98,728,486
Ensembl chr10:98,707,410...98,728,728

congenital disorder of glycosylation type IIh

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of oligomeric golgi complex 8

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

G

peptide deformylase (mitochondrial)

ClinVar Annotator: match by term: COG8-CDG

NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515

congenital disorder of glycosylation type IIi

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of oligomeric golgi complex 5

ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

G

dihydrouridine synthase 4-like

ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation

PMID:23228021 PMID:25741868 PMID:28492532

NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449

G

G protein-coupled receptor 22

ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation

PMID:23228021 PMID:28492532

NCBI chr 6:48,309,619...48,317,864
Ensembl chr 6:48,310,505...48,317,486

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation

NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787

congenital disorder of glycosylation type IIj

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of oligomeric golgi complex 4

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 chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796

G

fucose kinase

ClinVar Annotator: match by term: COG4-CDG

NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 2

ClinVar Annotator: match by term: COG4-CDG

NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869

congenital disorder of glycosylation type IIk

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminoadipate-semialdehyde dehydrogenase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,255,019...31,281,802
Ensembl chr14:31,255,310...31,281,796

G

ADP-ribosylation factor like GTPase 9

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr14:31,157,573...31,166,803
Ensembl chr14:31,157,586...31,166,699

G

centrosomal protein 135

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772

G

clock circadian regulator

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400

G

capping protein inhibiting regulator of actin dynamics

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,284,066...31,520,103
Ensembl chr14:31,284,184...31,522,431

G

exocyst complex component 1

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,611,536...31,659,920
Ensembl chr14:31,611,547...31,659,914

G

HOP homeobox

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr14:31,055,912...31,082,909
Ensembl chr14:31,075,148...31,082,909

G

kinase insert domain receptor

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KIT proto-oncogene receptor tyrosine kinase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

neuromedin U

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,844,564...31,872,196
Ensembl chr14:31,844,728...31,872,192

G

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635

G

phosducin-like 2

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,874,563...31,895,265
Ensembl chr14:31,874,578...31,895,272

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

phosphoribosyl pyrophosphate amidotransferase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144

G

RE1-silencing transcription factor

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354

G

serine peptidase inhibitor, Kazal type 2

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr14:30,967,682...30,974,326
Ensembl chr14:30,967,714...30,974,326

G

sperm microtubule associated protein 2 like

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr14:31,110,104...31,152,487
Ensembl chr14:31,110,106...31,151,561

G

steroid 5 alpha-reductase 3

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747

G

signal recognition particle 72

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729

G

transmembrane protein 165

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 chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717

congenital disorder of glycosylation type IIl

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of oligomeric golgi complex 6

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 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190

congenital disorder of glycosylation type IIm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 4

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684

G

A-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073

G

bone morphogenetic protein 15

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187

G

calcium voltage-gated channel subunit alpha1 F

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413

G

coiled-coil domain containing 120

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743

G

coiled-coil domain containing 22

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244

G

cyclin B3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885

G

cyclin-dependent kinase 16

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148

G

complement factor properdin

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264

G

diacylglycerol kinase kappa

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987

G

EBP, cholestenol delta-isomerase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826

G

ETS transcription factor ELK1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713

G

ES cell expressed Ras

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374

G

forkhead box P3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

FtsJ RNA 2'-O-methyltransferase 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030

G

GATA binding protein 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

glyoxalase domain containing 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683

G

G patch domain and KOW motifs

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384

G

GRIP1 associated protein 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679

G

histone deacetylase 6

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441

G

potassium voltage-gated channel subfamily D member 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233

G

MAGI family member, X-linked

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045

G

microRNA 500

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859

G

microRNA 532

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393

G

NADH:ubiquinone oxidoreductase subunit B11

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573

G

proprotein convertase subtilisin/kexin type 1 inhibitor

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566

G

Pim-2 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851

G

proteolipid protein 2

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514

G

porcupine O-acyltransferase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481

G

protein phosphatase 1, regulatory subunit 3F

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193

G

polyglutamine binding protein 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087

G

PRA1 domain family, member 2

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909

G

prickle planar cell polarity protein 3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218

G

RNA binding motif protein 10

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575

G

RNA binding motif protein 3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580

G

shroom family member 4

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869

G

solute carrier family 35 member A2

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:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678

G

solute carrier family 38, member 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498

G

sperm acrosome associated 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049

G

SSX family member 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982

G

SUV39H1 histone lysine methyltransferase, pseudogene 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:141,792,589...141,795,257

G

synapsin I

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396

G

synaptophysin

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745

G

TBC1 domain family, member 25

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275

G

transcription factor binding to IGHM enhancer 3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571

G

translocase of inner mitochondrial membrane 17b

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416

G

TIMP metallopeptidase inhibitor 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

ubiquitin-like modifier activating enzyme 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636

G

ubiquitin specific peptidase 11

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520

G

ubiquitin specific peptidase 27, X-linked

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912

G

ubiquitously-expressed, prefoldin-like chaperone

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849

G

WD repeat domain 13

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727

G

WD repeat domain 45

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202

G

zinc finger protein 157

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698

G

zinc finger protein 182

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954

G

zinc finger protein 81

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102

congenital disorder of glycosylation type IIn

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 39 member 8

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 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129

congenital disorder of glycosylation type IIo

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 115

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 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946

congenital disorder of glycosylation type IIp

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 199

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 chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108

congenital disorder of glycosylation type IIq

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

ARV1 homolog, fatty acid homeostasis modulator

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156

G

similar to human chromosome 1 open reading frame 131

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,807,932...52,822,259
Ensembl chr19:52,807,934...52,822,267

G

similar to human chromosome 1 open reading frame 198

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,604,060...52,629,436
Ensembl chr19:52,604,060...52,629,436

G

calpain 9

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,549,448...52,586,413
Ensembl chr19:52,549,448...52,586,413

G

component of oligomeric golgi complex 2

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 chr19:52,493,901...52,532,667
Ensembl chr19:52,493,932...52,526,874

G

family with sequence similarity 89, member A

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,710,002...52,722,630
Ensembl chr19:52,710,019...52,722,631

G

polypeptide N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,213,226...52,324,816
Ensembl chr19:52,213,351...52,324,813

G

glyceronephosphate O-acyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,822,326...52,848,872
Ensembl chr19:52,822,319...52,852,361

G

piggyBac transposable element derived 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,336,751...52,401,906
Ensembl chr19:52,336,751...52,402,397

G

tripartite motif-containing 67

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,763,991...52,805,906
Ensembl chr19:52,764,387...52,800,422

G

tetratricopeptide repeat domain 13

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr19:52,637,599...52,692,196
Ensembl chr19:52,637,431...52,692,198

Congenital Disorder of Glycosylation Type IIr

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting accessory protein 2

ClinVar Annotator: match by term: CDG IIr | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr

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

Congenital Disorder of Glycosylation Type IIt

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

polypeptide N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: CDG IIt | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit

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

Congenital Disorder of Glycosylation Type IIv

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ER degradation enhancing alpha-mannosidase like protein 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v

PMID:25741868 PMID:34143952

NCBI chr13:63,858,282...63,920,538
Ensembl chr13:63,858,716...63,920,523

Congenital Disorder of Glycosylation Type IIw

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 37 member 4

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw

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

Congenital Disorder of Glycosylation Type IIy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

guided entry of tail-anchored proteins factor 4

ClinVar Annotator: match by term: CDG IIy

PMID:25741868 PMID:32395830

NCBI chr12:15,377,009...15,394,238
Ensembl chr12:15,377,009...15,394,053

Congenital Disorder of Glycosylation Type IIz

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium modulating ligand

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIz

NCBI chr17:8,992,697...9,003,576
Ensembl chr17:8,992,696...9,003,552

Congenital Disorder of Glycosylation with Defective Fucosylation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fucose kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation

NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418

Congenital Disorder of Glycosylation with Defective Fucosylation 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fucosyltransferase 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1

PMID:24033266 PMID:25741868 PMID:28492532 PMID:29304374

NCBI chr 6:95,949,246...96,176,677
Ensembl chr 6:95,949,991...96,176,677

Congenital Disorder of Glycosylation with Defective Fucosylation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fucose kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 | ClinVar Annotator: match by term: FCSK-related condition

PMID:16199547 PMID:25741868 PMID:28492532 PMID:30503518

NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418

developmental and epileptic encephalopathy 36

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG13, UDP-N-acetylglucosaminyltransferase subunit

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More...

NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695

G

calpain 6

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chr X:107,380,774...107,405,489
Ensembl chr X:107,380,774...107,405,489

G

chordin-like 1

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chr X:106,889,125...106,992,937
Ensembl chr X:106,889,125...106,992,921

G

doublecortin

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476

G

p21 (RAC1) activated kinase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314

developmental and epileptic encephalopathy 50

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50

OMIM
CTD
ClinVar

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25678555 PMID:25741868 More...

NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861

Gillessen-Kaesbach-Nishimura Dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG9, alpha-1,2-mannosyltransferase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome

OMIM
CTD
ClinVar

PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More...

NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261

immunodeficiency 47

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting accessory protein 1

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:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034

NGLY1-deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-glycanase 1

ClinVar Annotator: match by term: Congenital disorder of deglycosylation | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 1 | ClinVar Annotator: match by term: NGLY1-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22581936 More...

NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630

G

N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta

compared to Wild type

RGD

G

retinoic acid receptor, beta

ClinVar Annotator: match by term: Congenital disorder of deglycosylation

PMID:24651605 PMID:28492532

NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288

G

DNA topoisomerase II beta

ClinVar Annotator: match by term: Congenital disorder of deglycosylation

PMID:24651605 PMID:28492532

NCBI chr15:9,051,340...9,111,721
Ensembl chr15:9,051,341...9,112,085

Term paths to the root

Path 1
Term	Annotations
disease	18976
physical disorder	4964
congenital disorder of glycosylation	540
Congenital Disorder of Glycosylation with Defective Fucosylation +	2
Congenital Disorder of Glycosylation, Type I/IIx	0
Gillessen-Kaesbach-Nishimura Dysplasia	1
NGLY1-deficiency	5
Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities	0
alacrima, achalasia, and impaired intellectual development syndrome	52
congenital disorder of glycosylation type I +	265
congenital disorder of glycosylation type II +	237
developmental and epileptic encephalopathy 50	1
Path 2
Term	Annotations
disease	18976
Developmental Disease	14397
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13406
genetic disease	13024
inherited metabolic disorder	6256
carbohydrate metabolic disorder	3309
congenital disorder of glycosylation	540
Congenital Disorder of Glycosylation with Defective Fucosylation +	2
Congenital Disorder of Glycosylation, Type I/IIx	0
Gillessen-Kaesbach-Nishimura Dysplasia	1
NGLY1-deficiency	5
Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities	0
alacrima, achalasia, and impaired intellectual development syndrome	52
congenital disorder of glycosylation type I +	265
congenital disorder of glycosylation type II +	237
developmental and epileptic encephalopathy 50	1

paths to the root