congenital disorder of glycosylation - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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.

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Rat (539) Mouse (540) Human (13479) Chinchilla (520) Bonobo (541) Dog (538) Squirrel (520) Pig (531) Green Monkey (531) Naked Mole-rat (517) All
Genes (538)

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:9536098 PMID:14709599 PMID:14973778 PMID:14973782 PMID:16199547 More...

NCBI chr 6:36,369,246...36,380,963

G

ALG11 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr22:149,538...162,206
Ensembl chr22:151,641...162,512

G

ALG12 alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr10:17,293,945...17,300,982
Ensembl chr10:17,293,552...17,300,974

G

ALG13 UDP-N-acetylglucosaminyltransferase subunit

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:32681751 PMID:33734437

NCBI chr X:84,752,284...84,825,414

G

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

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr11:56,274,494...56,279,456
Ensembl chr11:56,275,495...56,279,412

G

ALG3 alpha-1,3- mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr34:17,135,362...17,141,284
Ensembl chr34:17,132,853...17,152,901

G

ALG6 alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 5:46,717,779...46,784,488
Ensembl chr 5:46,718,786...46,783,809

G

ALG8 alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr21:20,702,969...20,730,181
Ensembl chr21:20,703,031...20,730,197

G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 5:21,211,533...21,323,851

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266

G

beta-1,4-galactosyltransferase 1

susceptibility

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

PMID:11901181 PMID:25741868 PMID:28492532

NCBI chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730

G

C1GALT1 specific chaperone 1

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

PMID:25741868 PMID:37216524

NCBI chr X:92,581,124...92,584,701
Ensembl chr X:92,581,488...92,582,444

G

component of oligomeric golgi complex 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chr 9:6,965,583...6,990,905
Ensembl chr 9:6,957,192...6,978,309

G

component of oligomeric golgi complex 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr18:13,039,889...13,338,958
Ensembl chr18:13,039,889...13,338,538

G

component of oligomeric golgi complex 6

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr25:1,428,277...1,524,734
Ensembl chr25:1,331,966...1,524,747

G

component of oligomeric golgi complex 7

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 6:22,355,149...22,435,383
Ensembl chr 6:22,355,296...22,438,984

G

component of oligomeric golgi complex 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 5:80,316,440...80,323,532

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 2:78,268,540...78,275,789
Ensembl chr 2:78,267,912...78,294,463

G

dolichol kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 9:54,712,920...54,715,005
Ensembl chr 9:54,713,239...54,714,849

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 5:14,760,518...14,765,306
Ensembl chr 5:14,760,784...14,764,967

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 chr24:37,249,203...37,268,620
Ensembl chr24:37,249,502...37,268,587

G

dihydrouridine synthase 4 like

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr18:13,023,755...13,040,180
Ensembl chr18:13,023,744...13,039,817

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 chr 6:36,353,626...36,370,466

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr18:13,339,359...13,368,105
Ensembl chr18:13,340,287...13,367,915

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 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082

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:60,122,021...60,186,457
Ensembl chr X:60,128,571...60,186,507

G

mannosidase alpha class 2B member 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 3:58,669,585...58,702,555

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 8:26,244,894...26,247,960
Ensembl chr 8:26,245,407...26,246,747

G

mannose-P-dolichol utilization defect 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 5:32,504,644...32,507,903
Ensembl chr 5:32,504,695...32,507,291

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr30:37,933,091...37,940,945
Ensembl chr30:37,932,186...37,940,971

G

maestro heat like repeat family member 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr24:25,768,115...25,827,848
Ensembl chr24:25,770,731...25,828,080

G

nucleoporin 188

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 9:54,657,520...54,712,900
Ensembl chr 9:54,657,682...54,712,827

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 chr 1:57,866,760...57,895,505
Ensembl chr 1:57,866,879...57,893,077

G

peptide deformylase, mitochondrial

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr 5:80,323,573...80,325,665

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 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622

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 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123

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...

NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025

G

DNA polymerase epsilon 2, accessory subunit

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 8:26,264,220...26,295,089
Ensembl chr 8:26,251,160...26,295,317

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 chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240

G

RFT1 homolog

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr20:36,781,782...36,822,209

G

ribophorin II

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr24:25,827,524...25,884,813
Ensembl chr24:25,827,450...25,955,742

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 chr12:46,968,664...46,992,620
Ensembl chr12:46,968,521...46,991,872

G

solute carrier family 35 member A2

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr X:42,060,568...42,071,330
Ensembl chr X:42,052,781...42,071,012

G

solute carrier family 35 member C1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr18:43,603,695...43,611,381
Ensembl chr18:43,605,315...43,610,229

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 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004

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 chr13:47,627,854...47,643,116
Ensembl chr13:47,627,913...47,642,566

G

signal sequence receptor subunit 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chr23:50,136,591...50,150,424
Ensembl chr23:50,138,909...50,150,415

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 chr13:47,658,408...47,683,519
Ensembl chr13:47,658,330...47,682,866

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 chr16:38,798,764...39,086,508
Ensembl chr16:38,862,591...39,084,458

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 chr37:24,943,660...24,948,589
Ensembl chr37:24,937,081...24,948,529

G

ATP binding cassette subfamily B member 6

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

NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chr37:25,777,665...25,783,892
Ensembl chr37:25,777,713...25,783,887

G

actin related protein 2/3 complex subunit 2

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

NCBI chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824

G

acid sensing ion channel subunit family member 4

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

NCBI chr37:26,024,136...26,048,060
Ensembl chr37:26,024,947...26,048,077

G

autophagy related 9A

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

NCBI chr37:25,768,287...25,777,529
Ensembl chr37:25,768,275...25,890,811

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

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

NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chr37:25,010,856...25,024,682
Ensembl chr37:25,021,316...25,024,688

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chr37:25,528,934...25,535,795
Ensembl chr37:25,529,151...25,530,263

G

cilia and flagella associated protein 65

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

NCBI chr37:25,569,302...25,601,943
Ensembl chr37:25,569,303...25,623,885

G

chondroitin polymerizing factor

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

NCBI chr37:26,048,236...26,052,871
Ensembl chr37:26,025,993...26,052,806

G

CCR4-NOT transcription complex subunit 9

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

NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chr37:25,729,196...25,734,724
Ensembl chr37:25,729,180...25,737,627

G

crystallin beta A2

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

NCBI chr37:25,556,308...25,567,952
Ensembl chr37:25,556,303...25,564,284

G

CTD small phosphatase 1

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

NCBI chr37:25,051,839...25,057,506
Ensembl chr37:25,050,267...25,056,113

G

C-X-C motif chemokine receptor 2

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

NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247

G

cytochrome P450 family 27 subfamily A member 1

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

NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509

G

desmin

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

NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144

G

aspartyl aminopeptidase

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

NCBI chr37:25,898,015...25,917,997
Ensembl chr37:25,863,445...25,918,224

G

FEV transcription factor, ETS family member

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

NCBI chr37:25,548,578...25,552,092

G

galactosidase beta 1 like

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

NCBI chr37:25,783,837...25,793,968
Ensembl chr37:25,783,816...25,792,589

G

GDP-mannose pyrophosphorylase A

ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

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

NCBI chr37:26,010,531...26,017,798
Ensembl chr37:26,010,638...26,017,787

G

G protein-coupled bile acid receptor 1

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

NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421

G

Indian hedgehog signaling molecule

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

NCBI chr37:25,616,942...25,622,989

G

microRNA mir-26b

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

NCBI chr37:25,054,488...25,054,543

G

microRNA mir-375

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

NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127

G

non-homologous end joining factor 1

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

NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372

G

obscurin like cytoskeletal adaptor 1

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

NCBI chr37:26,059,713...26,079,503
Ensembl chr37:26,059,713...26,079,488

G

phospholipase C delta 4

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

NCBI chr37:25,221,329...25,244,492
Ensembl chr37:25,226,244...25,244,914

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chr37:25,405,794...25,414,745
Ensembl chr37:25,406,190...25,414,961

G

protein tyrosine phosphatase receptor type N

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

NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931

G

reticulophagy regulator family member 2

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

NCBI chr37:25,734,960...25,740,950
Ensembl chr37:25,734,960...25,739,808

G

ring finger protein 25

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

NCBI chr37:25,266,945...25,273,269
Ensembl chr37:25,266,947...25,273,131

G

solute carrier family 11 member 1

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

NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

G

solute carrier family 23 member 3

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

NCBI chr37:25,720,935...25,727,589
Ensembl chr37:25,720,809...25,732,831

G

striated muscle enriched protein kinase

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

NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601

G

serine/threonine kinase 16

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

NCBI chr37:25,793,993...25,797,632
Ensembl chr37:25,794,382...25,797,587

G

serine/threonine kinase 36

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

NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chr37:24,952,145...24,983,477
Ensembl chr37:24,952,902...24,958,137

G

transmembrane protein 198

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

NCBI chr37:26,053,469...26,059,579
Ensembl chr37:26,052,168...26,058,810

G

tubulin tyrosine ligase like 4

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

NCBI chr37:25,303,818...25,341,315
Ensembl chr37:25,273,110...25,340,512

G

tubulin alpha 4a

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

NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892

G

ubiquitin specific peptidase 37

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

NCBI chr37:25,090,702...25,186,503
Ensembl chr37:25,090,702...25,186,503

G

villin 1

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

NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705

G

Wnt family member 10A

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

NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764

G

Wnt family member 6

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

NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654

G

zinc finger AN1-type containing 2B

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

NCBI chr37:25,757,454...25,760,366
Ensembl chr37:25,757,669...25,760,132

G

zinc finger protein 142

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

NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296

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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326

G

insulin like growth factor 1

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

insulin like growth factor 2

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

G

insulin like growth factor binding protein acid labile subunit

NCBI chr 6:39,115,744...39,118,831
Ensembl chr 6:39,114,315...39,119,652

G

insulin like growth factor binding protein 3

NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392

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

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

NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025

G

transmembrane protein 186

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

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 chr 1:58,821,324...58,834,935
Ensembl chr 1:58,821,521...58,946,475

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 chr 1:56,923,115...56,978,067
Ensembl chr 1:56,973,036...56,978,049

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 chr 1:56,928,836...56,934,196
Ensembl chr 1:56,928,864...56,933,455

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 chr 1:56,894,565...56,896,665
Ensembl chr 1:56,894,631...56,896,481

G

centrosomal protein 85 like

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054

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 chr12:71,803,372...71,810,049
Ensembl chr12:71,798,692...71,809,399

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 chr 1:57,733,681...57,809,624
Ensembl chr 1:57,716,008...57,799,929
Ensembl chr 1:57,716,008...57,799,929

G

dermatan sulfate epimerase

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr 1:56,787,809...56,868,037
Ensembl chr 1:56,787,256...56,867,716

G

family with sequence similarity 162 member B

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr 1:57,159,367...57,169,533
Ensembl chr 1:57,162,197...57,169,557

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 chr 1:57,790,118...57,829,022
Ensembl chr 1:57,792,647...57,828,820

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 chr 1:57,191,210...57,212,008
Ensembl chr 1:57,191,325...57,212,027

G

karyopherin subunit alpha 5

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr 1:57,112,204...57,154,865
Ensembl chr 1:57,112,224...57,151,583

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 chr 1:58,746,637...58,862,550
Ensembl chr 1:58,767,159...58,859,282

G

5'-nucleotidase domain containing 1

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr12:71,790,973...71,909,109
Ensembl chr12:71,791,748...71,907,498

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

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

NCBI chr 1:57,866,760...57,895,505
Ensembl chr 1:57,866,879...57,893,077

G

phospholamban

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535

G

regulatory factor X6

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr 1:57,242,563...57,297,300
Ensembl chr 1:57,241,927...57,296,546

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 chr 1:57,555,278...57,677,541
Ensembl chr 1:57,555,989...57,677,761

G

radial spoke head component 4A

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr 1:57,063,752...57,079,289
Ensembl chr 1:57,064,624...57,077,537

G

RWD domain containing 1

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr 1:56,986,809...57,008,720
Ensembl chr 1:56,987,202...57,007,037

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 chr 1:58,010,752...58,397,987
Ensembl chr 1:58,010,752...58,397,987

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 chr 1:56,922,018...56,986,818
Ensembl chr 1:56,924,057...56,958,307

G

TSPY like 1

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr12:71,933,904...71,937,508
Ensembl chr12:71,935,792...71,937,285

G

TSPY like 4

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr12:71,916,682...71,918,481

G

vestigial like family member 2

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chr 1:57,529,901...57,537,893
Ensembl chr 1:57,529,928...57,574,871

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 chr 1:57,076,730...57,108,527
Ensembl chr 1:57,067,005...57,106,837

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 chr30:37,941,944...37,948,033
Ensembl chr30:37,941,974...37,948,069

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

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

NCBI chr30:37,933,091...37,940,945
Ensembl chr30:37,932,186...37,940,971

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

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

NCBI chr 5:46,717,779...46,784,488
Ensembl chr 5:46,718,786...46,783,809

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:60,122,021...60,186,457
Ensembl chr X:60,128,571...60,186,507

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 chr34:16,856,624...16,947,844
Ensembl chr34:16,856,633...16,946,422

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 chr34:17,082,911...17,089,942
Ensembl chr34:17,082,987...17,089,911

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

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

NCBI chr34:17,135,362...17,141,284
Ensembl chr34:17,132,853...17,152,901

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 chr34:17,071,199...17,080,445
Ensembl chr34:17,071,235...17,080,445

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 chr34:16,208,518...16,228,592
Ensembl chr34:16,225,002...16,226,147

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 chr34:17,149,064...17,151,371

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 chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621

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 chr34:17,053,534...17,069,965
Ensembl chr34:17,053,343...17,068,389

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 chr34:17,141,411...17,174,413
Ensembl chr34:17,141,494...17,148,444
Ensembl chr34:17,141,494...17,148,444

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 chr34:17,038,163...17,047,390
Ensembl chr34:17,038,203...17,046,928

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 chr34:17,194,588...17,214,498
Ensembl chr34:17,195,562...17,214,052

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 chr34:17,216,651...17,224,214
Ensembl chr34:17,216,864...17,223,872

G

5-hydroxytryptamine receptor 3C

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

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

NCBI chr34:16,969,213...16,976,401

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 chr34:16,583,683...16,625,778
Ensembl chr34:16,590,368...16,621,041

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 chr34:16,443,282...16,556,991
Ensembl chr34:16,446,944...16,504,549

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 chr34:16,092,172...16,126,563

G

5-hydroxytryptamine receptor 3E

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

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

NCBI chr34:17,011,403...17,019,214
Ensembl chr34:17,011,555...17,018,941

G

5-hydroxytryptamine receptor 3C-like

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

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

NCBI chr34:16,958,296...16,961,863
Ensembl chr34:16,958,083...16,961,857

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 chr34:16,781,131...16,788,432

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 chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387

G

MCF.2 cell line derived transforming sequence-like 2

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

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

NCBI chr34:16,139,445...16,378,340
Ensembl chr34:16,142,177...16,380,259

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 chr34:16,790,049...16,837,557
Ensembl chr34:16,781,139...16,837,545

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 chr34:17,240,604...17,244,907
Ensembl chr34:17,240,624...17,244,904

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 chr34:17,180,119...17,189,298
Ensembl chr34:17,180,098...17,189,303

G

thrombopoietin

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

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

NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033

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 chr34:17,125,012...17,135,285
Ensembl chr34:17,123,642...17,135,287

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 chr34:16,654,672...16,777,493
Ensembl chr34:16,654,493...16,777,506

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 chr24:37,211,776...37,245,938
Ensembl chr24:37,213,942...37,243,702

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

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

NCBI chr24:37,249,203...37,268,620
Ensembl chr24:37,249,502...37,268,587

G

molybdenum cofactor synthesis 3

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

PMID:10642597 PMID:10642602 PMID:28492532

NCBI chr24:37,268,781...37,271,581
Ensembl chr24:37,268,808...37,270,304

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

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

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

NCBI chr 5:32,504,644...32,507,903
Ensembl chr 5:32,504,695...32,507,291

G

SRY-box transcription factor 15

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

NCBI chr 5:32,507,869...32,509,763
Ensembl chr 5:32,508,074...32,509,333

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 chr10:16,818,026...16,822,463
Ensembl chr10:16,816,319...16,820,440

G

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

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

PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 More...

NCBI chr 6:36,369,246...36,380,963

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

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

NCBI chr10:17,293,945...17,300,982
Ensembl chr10:17,293,552...17,300,974

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 chr30:16,745,567...16,800,662
Ensembl chr30:16,745,620...16,797,704

G

arylsulfatase A

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398

G

bromodomain containing 1

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

NCBI chr10:17,361,043...17,396,725
Ensembl chr10:17,361,117...17,395,928

G

choline kinase beta

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,733,071...16,736,797
Ensembl chr10:16,733,095...16,736,758

G

ciliary microtubule associated protein 1B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,779,661...16,785,392
Ensembl chr10:16,783,169...16,786,341

G

carnitine palmitoyltransferase 1B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,737,106...16,744,626
Ensembl chr10:16,737,289...16,744,624

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 chr10:17,286,141...17,293,327
Ensembl chr10:17,286,134...17,293,740

G

DENN domain containing 6B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,939,946...16,948,777
Ensembl chr10:16,939,093...16,948,689

G

histone deacetylase 10

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,996,307...17,001,365
Ensembl chr10:16,995,762...17,078,262

G

interleukin 17 receptor E like

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:17,238,418...17,242,686
Ensembl chr10:17,216,084...17,242,226

G

kelch domain containing 7B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,772,594...16,775,506

G

lipase maturation factor 2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,802,110...16,806,471
Ensembl chr10:16,801,342...16,806,020

G

mitogen-activated protein kinase 11

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,977,133...16,984,764

G

mitogen-activated protein kinase 12

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,986,828...16,994,937
Ensembl chr10:16,986,828...16,994,937

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 chr10:16,702,623...16,712,426
Ensembl chr10:16,702,621...16,712,278

G

myo-inositol oxygenase

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,813,532...16,815,930
Ensembl chr10:16,813,545...16,818,015

G

modulator of VRAC current 1

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:17,139,912...17,164,666
Ensembl chr10:17,139,448...17,163,056

G

Mov10 like RNA helicase 1

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:17,067,273...17,139,910
Ensembl chr10:17,067,273...17,240,197

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 chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824

G

pannexin 2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:17,052,972...17,059,756
Ensembl chr10:17,052,956...17,055,880

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 chr10:17,260,590...17,262,175

G

plexin B2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,949,230...16,975,109
Ensembl chr10:16,963,396...16,974,705

G

protein phosphatase 6 regulatory subunit 2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,846,250...16,929,855
Ensembl chr10:16,846,899...16,929,884

G

SET binding factor 1

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,823,456...16,845,800
Ensembl chr10:16,828,599...16,845,789

G

synthesis of cytochrome C oxidase 2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247

G

selenoprotein O

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:17,025,023...17,032,922
Ensembl chr10:16,968,287...17,033,250

G

synaptonemal complex central element protein 3

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:16,748,760...16,772,496
Ensembl chr10:16,758,528...16,772,344

G

TraB domain containing

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:17,043,710...17,045,935
Ensembl chr10:17,043,767...17,046,068

G

tubulin tyrosine ligase like 8

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:17,165,586...17,237,608
Ensembl chr10:17,164,294...17,213,924

G

tubulin gamma complex component 6

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chr10:17,023,609...17,025,956
Ensembl chr10:17,006,770...17,025,105
Ensembl chr10:17,006,770...17,025,105

G

zinc finger BED-type containing 4

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

NCBI chr10:17,313,750...17,343,609
Ensembl chr10:17,315,015...17,318,512

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

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

NCBI chr21:20,702,969...20,730,181
Ensembl chr21:20,703,031...20,730,197

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 chr11:56,274,494...56,279,456
Ensembl chr11:56,275,495...56,279,412

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 chr11:55,845,695...55,893,253
Ensembl chr11:55,847,808...55,893,257

G

acidic nuclear phosphoprotein 32 family member B

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

PMID:20813212 PMID:28492532

NCBI chr11:55,230,017...55,272,744
Ensembl chr11:55,243,854...55,350,194

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 chr25:19,027,014...19,031,467
Ensembl chr25:19,027,342...19,030,887

G

collagen type XV alpha 1 chain

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

PMID:20813212 PMID:28492532

NCBI chr11:56,026,209...56,131,698
Ensembl chr11:56,025,269...56,130,861

G

coronin 2A

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

PMID:20813212 PMID:28492532

NCBI chr11:55,345,577...55,400,092
Ensembl chr11:55,345,934...55,372,374

G

endoplasmic reticulum protein 44

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

PMID:20813212 PMID:28492532

NCBI chr11:56,957,064...57,039,898
Ensembl chr11:56,958,817...57,039,741

G

forkhead box E1

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

PMID:20813212 PMID:28492532

NCBI chr11:55,143,389...55,145,954

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 chr11:55,469,327...55,817,930
Ensembl chr11:55,470,197...55,817,945

G

polypeptide N-acetylgalactosaminyltransferase 12

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

PMID:20813212 PMID:28492532

NCBI chr11:55,909,368...55,947,791
Ensembl chr11:55,909,252...55,947,788

G

hemogen

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

PMID:20813212 PMID:28492532

NCBI chr11:55,208,038...55,223,487
Ensembl chr11:55,208,327...55,219,643

G

inversin

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

PMID:20813212 PMID:28492532

NCBI chr11:57,040,005...57,196,465
Ensembl chr11:57,040,070...57,195,281

G

N-acetylneuraminate synthase

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

PMID:20813212 PMID:28492532

NCBI chr11:55,286,290...55,310,904
Ensembl chr11:55,243,854...55,350,194

G

nuclear cap binding protein subunit 1

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

PMID:20813212 PMID:28492532

NCBI chr11:54,938,250...54,974,536
Ensembl chr11:54,938,372...54,974,547

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 chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689

G

SEC61 translocon subunit beta

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

PMID:20813212 PMID:28492532

NCBI chr11:56,279,564...56,298,593
Ensembl chr11:56,251,636...56,286,291

G

syntaxin 17

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

PMID:20813212 PMID:28492532

NCBI chr11:56,885,874...56,951,714
Ensembl chr11:56,885,174...56,945,767

G

TBC1 domain family member 2

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

PMID:20813212 PMID:28492532

NCBI chr11:55,404,468...55,455,061
Ensembl chr11:55,404,506...55,454,890

G

tudor domain containing 7

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

PMID:20813212 PMID:28492532

NCBI chr11:54,758,092...54,828,766
Ensembl chr11:54,758,826...54,828,743

G

transforming growth factor beta receptor 1

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

PMID:20813212 PMID:28492532

NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594

G

transmembrane protein 199

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

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

NCBI chr 9:42,607,688...42,614,776
Ensembl chr 9:42,607,733...42,611,445

G

tropomodulin 1

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

PMID:20813212 PMID:28492532

NCBI chr11:54,853,205...54,914,236
Ensembl chr11:54,853,204...54,912,773

G

tripartite motif containing 14

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

PMID:20813212 PMID:28492532

NCBI chr11:55,313,700...55,343,217
Ensembl chr11:55,316,111...55,343,287

G

tRNA methyltransferase O

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

PMID:20813212 PMID:28492532

NCBI chr11:55,185,752...55,202,885
Ensembl chr11:55,147,629...55,202,827

G

thiosulfate sulfurtransferase like domain containing 2

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

PMID:20813212 PMID:28492532

NCBI chr11:54,914,459...54,938,156
Ensembl chr11:54,914,991...54,937,831

G

XPA, DNA damage recognition and repair factor

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

PMID:20813212 PMID:28492532

NCBI chr11:54,976,978...54,996,140
Ensembl chr11:54,976,976...54,996,065

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 5:14,707,964...14,720,782
Ensembl chr 5:14,707,960...14,721,240

G

C2CD2 like

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

PMID:22742743 PMID:28492532

NCBI chr 5:14,746,613...14,755,952
Ensembl chr 5:14,747,208...14,755,925

G

Cbl proto-oncogene

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

PMID:22742743 PMID:28492532

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

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

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

NCBI chr 5:14,760,518...14,765,306
Ensembl chr 5:14,760,784...14,764,967

G

dynein regulatory complex subunit 12 homolog

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

PMID:22742743 PMID:28492532

NCBI chr 5:14,679,180...14,686,446
Ensembl chr 5:14,682,004...14,686,150

G

histone H4 transcription factor

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

PMID:22742743 PMID:28492532

NCBI chr 5:14,731,592...14,742,893
Ensembl chr 5:14,731,588...14,742,559

G

hydroxymethylbilane synthase

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

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082

G

NHERF family PDZ scaffold protein 4

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

PMID:22742743 PMID:28492532

NCBI chr 5:14,687,868...14,692,474
Ensembl chr 5:14,687,905...14,692,128

G

NLR family member X1

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

PMID:22742743 PMID:28492532

NCBI chr 5:14,692,621...14,705,214
Ensembl chr 5:14,564,935...14,705,257

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

PMID:9536098 PMID:14709599 PMID:14973778 PMID:14973782 PMID:16199547 More...

NCBI chr 6:36,369,246...36,380,963

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 chr 6:36,353,626...36,370,466

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

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

NCBI chr 5:21,211,533...21,323,851

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 chr26:5,911,319...5,952,773
Ensembl chr26:5,912,887...5,952,306

G

chromosome 5 C11orf52 homolog

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

PMID:25966638 PMID:28492532

NCBI chr 5:21,168,810...21,177,594
Ensembl chr 5:21,169,460...21,176,171

G

cilia and flagella associated protein 68

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

PMID:25966638 PMID:28492532

NCBI chr 5:21,199,494...21,205,441
Ensembl chr 5:21,201,326...21,205,111

G

crystallin alpha B

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

PMID:25966638 PMID:28492532

NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132

G

DIX domain containing 1

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

PMID:25966638 PMID:28492532

NCBI chr 5:21,097,000...21,168,470
Ensembl chr 5:21,100,045...21,167,166

G

dihydrolipoamide S-acetyltransferase

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

PMID:25966638 PMID:28492532

NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153

G

ferredoxin-fold anticodon binding domain containing 1

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

PMID:25966638 PMID:28492532

NCBI chr 5:21,205,520...21,210,629

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 5:21,179,875...21,181,096
Ensembl chr 5:21,179,881...21,181,017

G

tectonic family member 2

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

NCBI chr26:5,954,302...5,979,853
Ensembl chr26:5,954,738...5,979,750

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

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

NCBI chr 9:54,712,920...54,715,005
Ensembl chr 9:54,713,239...54,714,849

G

nucleoporin 188

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

NCBI chr 9:54,657,520...54,712,900
Ensembl chr 9:54,657,682...54,712,827

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 chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638

G

BRCA1 associated protein 1

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

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

dynein axonemal heavy chain 1

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

NCBI chr20:37,364,836...37,441,486
Ensembl chr20:37,364,842...37,465,807

G

glycosyltransferase 8 domain containing 1

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

NCBI chr20:37,093,826...37,103,213
Ensembl chr20:37,093,653...37,103,211

G

glycerate kinase

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

NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807

G

G protein nucleolar 3

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

NCBI chr20:37,103,298...37,110,350
Ensembl chr20:37,103,320...37,110,207

G

inter-alpha-trypsin inhibitor heavy chain 1

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

NCBI chr20:37,038,070...37,051,866
Ensembl chr20:37,038,070...37,052,675

G

inter-alpha-trypsin inhibitor heavy chain 3

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

NCBI chr20:37,032,485...37,035,941

G

inter-alpha-trypsin inhibitor heavy chain 4

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

G

store-operated calcium entry regulator STIMATE

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

NCBI chr20:36,984,436...37,032,198

G

microRNA let-7g

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

NCBI chr20:37,501,074...37,501,152
Ensembl chr20:37,501,054...37,501,160

G

musculoskeletal, embryonic nuclear protein 1

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

G

NIMA related kinase 4

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

NCBI chr20:37,056,852...37,091,977
Ensembl chr20:37,056,754...37,092,686

G

nischarin

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

NCBI chr20:37,278,660...37,312,549
Ensembl chr20:37,279,282...37,312,636

G

5'-nucleotidase domain containing 2

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

NCBI chr20:37,241,251...37,249,872
Ensembl chr20:37,240,038...37,249,832

G

polybromo 1

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

NCBI chr20:37,110,437...37,231,676
Ensembl chr20:37,110,766...37,229,203

G

PHD finger protein 7

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

NCBI chr20:37,343,167...37,355,166
Ensembl chr20:37,343,167...37,354,761

G

POC1 centriolar protein A

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

NCBI chr20:37,592,080...37,659,783
Ensembl chr20:37,544,186...37,681,725

G

protein phosphatase, Mg2+/Mn2+ dependent 1M

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

NCBI chr20:37,515,772...37,519,937
Ensembl chr20:37,515,518...37,520,149

G

RFT1 homolog

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

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

NCBI chr20:36,781,782...36,822,209

G

semaphorin 3G

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

NCBI chr20:37,322,531...37,334,333
Ensembl chr20:37,322,565...37,332,818

G

Scm like with four mbt domains 1

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

NCBI chr20:36,853,108...36,978,306
Ensembl chr20:36,921,566...36,972,675

G

signal peptidase complex subunit 1

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

NCBI chr20:37,091,420...37,092,972
Ensembl chr20:37,091,792...37,263,577

G

stabilin 1

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

NCBI chr20:37,249,744...37,276,642
Ensembl chr20:37,249,746...37,276,535

G

toll like receptor 9

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

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

G

troponin C1, slow skeletal and cardiac type

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

NCBI chr20:37,313,983...37,317,288
Ensembl chr20:37,311,966...37,317,321

G

twinfilin actin binding protein 2

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

NCBI chr20:37,529,322...37,539,955
Ensembl chr20:37,529,401...37,539,957

G

ubiquinol-cytochrome c reductase complex assembly factor 5

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

NCBI chr20:37,234,675...37,238,450
Ensembl chr20:37,228,887...37,238,746

G

WD repeat domain 82

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

NCBI chr20:37,494,633...37,513,746
Ensembl chr20:37,355,494...37,511,125

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

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

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

NCBI chr22:149,538...162,206
Ensembl chr22:151,641...162,512

G

ATPase copper transporting beta

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

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

NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266

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

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

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

NCBI chr13:47,627,854...47,643,116
Ensembl chr13:47,627,913...47,642,566

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 2:79,334,179...79,343,880
Ensembl chr 2:79,334,205...79,343,007

G

aldehyde dehydrogenase 4 family member A1

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

NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540

G

alkaline phosphatase, biomineralization associated

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

NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820

G

complement C1q A chain

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

NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977

G

complement C1q B chain

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

NCBI chr 2:76,650,440...76,655,546
Ensembl chr 2:76,650,586...76,655,549

G

complement C1q C chain

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

NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577

G

calcium/calmodulin dependent protein kinase II inhibitor 1

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

G

capping actin protein of muscle Z-line subunit beta

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

NCBI chr 2:79,182,668...79,311,529
Ensembl chr 2:79,181,851...79,311,518

G

cytidine deaminase

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

NCBI chr 2:78,305,328...78,327,229
Ensembl chr 2:78,304,726...78,327,247

G

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

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

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

NCBI chr 2:78,268,540...78,275,789
Ensembl chr 2:78,267,912...78,294,463

G

endothelin converting enzyme 1

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

NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114

G

eukaryotic translation initiation factor 4 gamma 3

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

NCBI chr 2:77,822,686...78,149,943
Ensembl chr 2:77,822,688...78,149,443

G

ER membrane protein complex subunit 1

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

NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314

G

EPH receptor A8

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

NCBI chr 2:76,703,538...76,739,327
Ensembl chr 2:76,703,524...76,739,259

G

family with sequence similarity 43 member B

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

G

heterochromatin protein 1 binding protein 3

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

NCBI chr 2:78,164,239...78,203,032
Ensembl chr 2:78,164,173...78,201,555

G

heparan sulfate proteoglycan 2

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

NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724

G

5-hydroxytryptamine receptor 6

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

NCBI chr 2:79,022,790...79,033,975
Ensembl chr 2:79,022,775...79,033,975

G

intermediate filament family orphan 2

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

NCBI chr 2:79,636,428...79,685,207
Ensembl chr 2:79,636,302...79,680,696

G

kinesin family member 17

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

NCBI chr 2:78,224,838...78,266,612
Ensembl chr 2:78,224,461...78,266,610

G

low density lipoprotein receptor class A domain containing 2

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

NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126

G

cell division cycle 42

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

NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211

G

proproteinase E

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

NCBI chr 2:77,223,095...77,228,755

G

MRT4 homolog, ribosome maturation factor

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

NCBI chr 2:79,360,897...79,367,038
Ensembl chr 2:79,360,970...79,366,935

G

mitochondrial E3 ubiquitin protein ligase 1

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

NCBI chr 2:78,394,013...78,402,032
Ensembl chr 2:78,394,040...78,425,482

G

NBL1, DAN family BMP antagonist

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

NCBI chr 2:79,040,206...79,102,792
Ensembl chr 2:79,041,105...79,102,820

G

NBL1, DAN family BMP antagonist

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

NCBI chr 2:79,068,865...79,102,818
Ensembl chr 2:79,041,105...79,102,820

G

OTU deubiquitinase 3

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

NCBI chr 2:78,843,627...78,875,215
Ensembl chr 2:78,847,177...78,875,121

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 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123

G

phospholipase A2 group IIC

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

NCBI chr 2:78,609,852...78,700,940

G

phospholipase A2 group IID

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

NCBI chr 2:78,739,826...78,745,839
Ensembl chr 2:78,739,769...78,745,920

G

phospholipase A2 group IIE

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

NCBI chr 2:78,834,820...78,838,058
Ensembl chr 2:78,831,309...78,841,821

G

phospholipase A2 group IIF

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

NCBI chr 2:78,714,251...78,724,257
Ensembl chr 2:78,716,228...78,723,984

G

phospholipase A2 group V

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

NCBI chr 2:78,762,851...78,781,642
Ensembl chr 2:78,762,852...78,781,983

G

RAP1 GTPase activating protein

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

NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205

G

ring finger protein 186

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

NCBI chr 2:78,915,131...78,916,909
Ensembl chr 2:78,915,339...78,916,037

G

SH2 domain containing 5

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

NCBI chr 2:78,210,752...78,223,629
Ensembl chr 2:78,211,112...78,223,634

G

solute carrier family 66 member 1

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

NCBI chr 2:79,318,200...79,334,047
Ensembl chr 2:79,318,345...79,320,885

G

transmembrane and coiled-coil domains 4

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

NCBI chr 2:78,930,982...79,022,247
Ensembl chr 2:78,937,040...79,022,250

G

ubiquitin protein ligase E3 component n-recognin 4

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

NCBI chr 2:79,403,336...79,536,385
Ensembl chr 2:79,403,351...79,536,208

G

UBX domain protein 10

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

NCBI chr 2:78,670,300...78,680,361
Ensembl chr 2:78,674,817...78,675,671

G

ubiquitin specific peptidase 48

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

NCBI chr 2:77,401,101...77,484,139
Ensembl chr 2:77,379,440...77,484,089

G

von Willebrand factor A domain containing 5B1

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

NCBI chr 2:78,525,507...78,582,674
Ensembl chr 2:78,528,654...78,593,983

G

Wnt family member 4

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

NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111

G

zinc finger and BTB domain containing 40

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

NCBI chr 2:76,767,650...76,841,353
Ensembl chr 2:76,769,571...76,818,727

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

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

NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622

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 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132

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 9:55,319,943...55,323,429
Ensembl chr 9:55,319,952...55,323,609

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 9:55,615,271...55,619,493
Ensembl chr 9:55,615,827...55,620,236

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 9:55,678,266...55,684,757
Ensembl chr 9:55,678,264...55,727,680

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 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945

G

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

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

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

NCBI chr 9:55,484,244...55,488,359
Ensembl chr 9:55,485,605...55,487,735

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 9:55,449,384...55,483,472
Ensembl chr 9:55,449,627...55,480,653

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 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064

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 9:55,590,092...55,612,639
Ensembl chr 9:55,585,970...55,599,028

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 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038

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 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488

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 9:55,395,318...55,400,266
Ensembl chr 9:55,395,710...55,398,412

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 9:55,802,010...55,853,960
Ensembl chr 9:55,802,014...55,852,540

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 9:55,490,881...55,499,755
Ensembl chr 9:55,490,942...55,498,891

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 9:55,343,424...55,349,349
Ensembl chr 9:55,343,424...55,348,959

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 9:55,676,605...55,678,442
Ensembl chr 9:55,676,622...55,678,434

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 9:55,626,379...55,656,667
Ensembl chr 9:55,626,360...55,656,507

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 9:55,358,348...55,394,624
Ensembl chr 9:55,360,043...55,394,519

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 9:55,499,100...55,513,562
Ensembl chr 9:55,504,639...55,513,174

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 9:55,520,083...55,533,205
Ensembl chr 9:55,520,109...55,532,055

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 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680

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 9:55,658,006...55,662,181
Ensembl chr 9:55,658,192...55,662,047

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 9:55,662,119...55,676,283
Ensembl chr 9:55,658,147...55,676,212

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 chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686

G

STT3 oligosaccharyltransferase complex catalytic subunit A

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

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

NCBI chr 5:8,916,428...8,942,097
Ensembl chr 5:8,910,940...8,942,146

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

ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x

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

NCBI chr23:13,036,301...13,143,629
Ensembl chr23:13,037,722...13,143,743

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:121,599,368...121,608,707
Ensembl chr X:121,599,368...121,608,643

G

plexin B3

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

NCBI chr X:121,577,564...121,593,294
Ensembl chr X:121,580,073...121,593,287

G

SRSF protein kinase 3

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

NCBI chr X:121,594,992...121,599,333
Ensembl chr X:121,594,864...121,599,277

G

signal sequence receptor subunit 4

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

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

NCBI chr X:121,608,802...121,613,796
Ensembl chr X:121,608,944...121,613,795

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

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

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

NCBI chr 7:42,368,898...42,369,686

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 chr 6:36,369,246...36,380,963

G

phosphomannomutase 2

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

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

NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025

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

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 chr11:56,274,494...56,279,456
Ensembl chr11:56,275,495...56,279,412

G

ankyrin repeat and sterile alpha motif domain containing 6

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,845,695...55,893,253
Ensembl chr11:55,847,808...55,893,257

G

acidic nuclear phosphoprotein 32 family member B

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,230,017...55,272,744
Ensembl chr11:55,243,854...55,350,194

G

collagen type XV alpha 1 chain

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:56,026,209...56,131,698
Ensembl chr11:56,025,269...56,130,861

G

coronin 2A

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,345,577...55,400,092
Ensembl chr11:55,345,934...55,372,374

G

endoplasmic reticulum protein 44

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:56,957,064...57,039,898
Ensembl chr11:56,958,817...57,039,741

G

forkhead box E1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,143,389...55,145,954

G

gamma-aminobutyric acid type B receptor subunit 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,469,327...55,817,930
Ensembl chr11:55,470,197...55,817,945

G

polypeptide N-acetylgalactosaminyltransferase 12

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,909,368...55,947,791
Ensembl chr11:55,909,252...55,947,788

G

hemogen

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,208,038...55,223,487
Ensembl chr11:55,208,327...55,219,643

G

inversin

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:57,040,005...57,196,465
Ensembl chr11:57,040,070...57,195,281

G

N-acetylneuraminate synthase

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,286,290...55,310,904
Ensembl chr11:55,243,854...55,350,194

G

nuclear cap binding protein subunit 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:54,938,250...54,974,536
Ensembl chr11:54,938,372...54,974,547

G

nuclear receptor subfamily 4 group A member 3

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689

G

SEC61 translocon subunit beta

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:56,279,564...56,298,593
Ensembl chr11:56,251,636...56,286,291

G

syntaxin 17

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:56,885,874...56,951,714
Ensembl chr11:56,885,174...56,945,767

G

TBC1 domain family member 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,404,468...55,455,061
Ensembl chr11:55,404,506...55,454,890

G

tudor domain containing 7

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:54,758,092...54,828,766
Ensembl chr11:54,758,826...54,828,743

G

transforming growth factor beta receptor 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594

G

tropomodulin 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:54,853,205...54,914,236
Ensembl chr11:54,853,204...54,912,773

G

tripartite motif containing 14

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,313,700...55,343,217
Ensembl chr11:55,316,111...55,343,287

G

tRNA methyltransferase O

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:55,185,752...55,202,885
Ensembl chr11:55,147,629...55,202,827

G

thiosulfate sulfurtransferase like domain containing 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:54,914,459...54,938,156
Ensembl chr11:54,914,991...54,937,831

G

XPA, DNA damage recognition and repair factor

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chr11:54,976,978...54,996,140
Ensembl chr11:54,976,976...54,996,065

congenital disorder of glycosylation type IIa

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: Carbohydrate-deficient glycoprotein syndrome type II

PMID:12684507 PMID:28492532

NCBI chr11:56,274,494...56,279,456
Ensembl chr11:56,275,495...56,279,412

G

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

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

PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 More...

NCBI chr 8:26,244,894...26,247,960
Ensembl chr 8:26,245,407...26,246,747

G

DNA polymerase epsilon 2, accessory subunit

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

NCBI chr 8:26,264,220...26,295,089
Ensembl chr 8:26,251,160...26,295,317

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 chr18:53,862,432...53,883,091
Ensembl chr18:53,862,541...53,882,536

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 chr17:49,144,184...49,168,872
Ensembl chr17:49,104,546...49,168,782

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 chr17:49,301,397...49,513,729
Ensembl chr17:49,301,606...49,513,625

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 chr17:48,613,648...48,617,091
Ensembl chr17:48,613,725...48,616,728

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 chr17:48,941,730...48,952,327
Ensembl chr17:48,941,387...48,989,852

G

chromosome 17 C2orf78 homolog

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

PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More...

NCBI chr17:49,231,377...49,239,686
Ensembl chr17:49,231,149...49,238,621

G

chromosome 17 C2orf81 homolog

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

PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More...

NCBI chr17:48,704,515...48,717,648

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 chr17:48,655,347...48,662,609
Ensembl chr17:48,655,383...48,662,583

G

cytochrome P450 family 26 subfamily B member 1

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

PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More...

NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894

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 chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147

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 chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782

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 chr17:48,588,579...48,591,523
Ensembl chr17:48,589,023...48,591,721

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 chr17:48,617,170...48,623,591
Ensembl chr17:48,617,613...48,623,591

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 chr17:49,245,476...49,261,774
Ensembl chr17:49,245,496...49,278,767

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 chr17:49,575,964...49,580,697
Ensembl chr17:49,575,466...49,578,251

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...

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 chr17:49,986,330...50,607,658
Ensembl chr17:49,986,390...50,604,451

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 chr17:49,585,511...49,613,406
Ensembl chr17:49,599,488...49,609,166

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 chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399

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 chr17:48,674,004...48,676,869

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 chr17:48,641,630...48,643,411
Ensembl chr17:48,641,674...48,643,239

G

T-complex protein 1 subunit eta

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

PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More...

NCBI chr34:37,026,053...37,027,839

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 chr17:48,590,996...48,610,264
Ensembl chr17:48,591,768...48,610,392

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 chr17:48,915,300...48,936,522
Ensembl chr17:48,915,346...48,933,303

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

PMID:10788335 PMID:12145188 PMID:16199547 PMID:24716661 PMID:25531304 More...

NCBI chr17:48,666,220...48,670,848
Ensembl chr17:48,667,224...48,670,646

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 chr17:48,663,271...48,666,078
Ensembl chr17:48,663,598...48,664,554

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 chr17:48,882,838...48,896,816
Ensembl chr17:48,883,724...48,941,949

G

N-acetyltransferase 8 (putative)

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

PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More...

NCBI chr17:49,285,915...49,288,362

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...

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 chr17:48,633,207...48,642,435
Ensembl chr17:48,633,332...48,635,554

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 chr17:49,633,772...49,649,450
Ensembl chr17:49,633,769...49,637,708

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 chr17:49,735,511...49,772,228
Ensembl chr17:49,735,097...49,803,741

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 chr17:48,684,794...48,700,309
Ensembl chr17:48,685,089...48,699,966

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 chr17:49,773,446...49,896,373
Ensembl chr17:49,773,883...49,894,400

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 chr17:48,769,963...48,882,201
Ensembl chr17:48,797,807...48,880,441

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 chr17:49,638,436...49,650,231
Ensembl chr17:49,639,765...49,650,182

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 chr17:49,950,192...49,957,455
Ensembl chr17:49,950,800...49,957,417

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 chr17:49,194,810...49,221,017
Ensembl chr17:49,195,101...49,221,013

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 chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675

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 chr17:48,625,008...48,627,085
Ensembl chr17:48,625,632...48,627,052

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 chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767

G

tetratricopeptide repeat domain 31

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

PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More...

NCBI chr17:48,647,765...48,655,413
Ensembl chr17:48,647,504...48,656,066

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 chr17:48,671,039...48,673,817
Ensembl chr17:48,671,152...48,673,459

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 chr17:48,700,432...48,734,250
Ensembl chr17:48,700,431...48,704,344

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 chr22:5,548,461...5,614,413
Ensembl chr22:5,405,741...5,614,277

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 chr18:42,346,207...42,356,447
Ensembl chr18:42,345,608...42,354,352

G

AGBL carboxypeptidase 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:41,960,085...42,003,399
Ensembl chr18:41,960,912...42,002,255

G

autophagy and beclin 1 regulator 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,903,815...43,073,918
Ensembl chr18:42,932,513...43,072,827

G

ADP ribosylation factor GTPase activating protein 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,399,743...42,410,044
Ensembl chr18:42,399,815...42,409,382

G

Rho GTPase activating protein 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,813,580...42,832,054
Ensembl chr18:42,813,693...42,830,458

G

autophagy related 13

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,834,538...42,886,873
Ensembl chr18:42,836,755...42,886,855

G

C1q and TNF related 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,060,880...42,065,411

G

CUGBP Elav-like family member 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,105,316...42,199,017
Ensembl chr18:42,105,324...42,179,161

G

cholinergic receptor muscarinic 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:43,077,115...43,084,298
Ensembl chr18:43,082,404...43,083,840

G

cytoskeleton associated protein 5

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,673,432...42,780,320
Ensembl chr18:42,711,471...42,780,090

G

cAMP responsive element binding protein 3 like 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:43,138,779...43,173,535
Ensembl chr18:43,139,453...43,173,420

G

cryptochrome circadian regulator 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:43,538,335...43,573,651
Ensembl chr18:43,539,612...43,573,875

G

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,410,230...42,604,987
Ensembl chr18:42,410,245...42,604,930

G

damage specific DNA binding protein 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,354,201...42,378,463
Ensembl chr18:42,354,572...42,377,947

G

diacylglycerol kinase zeta

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:43,088,169...43,103,820
Ensembl chr18:43,088,525...43,129,294

G

coagulation factor II, thrombin

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

family with sequence similarity 180 member B

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,065,888...42,068,258
Ensembl chr18:42,066,604...42,068,382

G

formin binding protein 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:41,913,548...41,958,732
Ensembl chr18:41,913,596...41,957,886

G

Frey regulator of sperm-oocyte fusion 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:43,516,326...43,517,103
Ensembl chr18:43,516,377...43,517,068

G

harbinger transposase derived 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,887,115...42,898,309
Ensembl chr18:42,888,508...42,896,960

G

kelch repeat and BTB domain containing 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,075,776...42,081,079
Ensembl chr18:42,075,891...42,081,095

G

LARGE xylosyl- and glucuronyltransferase 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:43,497,134...43,503,177
Ensembl chr18:43,497,484...43,502,619

G

LDL receptor related protein 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,616,683...42,667,297
Ensembl chr18:42,616,426...42,665,794

G

MAP kinase activating death domain

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,290,226...42,332,237
Ensembl chr18:42,290,754...42,328,586

G

mitogen-activated protein kinase 8 interacting protein 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:43,517,186...43,522,603
Ensembl chr18:43,517,677...43,526,379

G

midkine

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

G

mitochondrial carrier 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,023,484...42,045,331
Ensembl chr18:42,023,511...42,044,060

G

myosin binding protein C3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215

G

NADH:ubiquinone oxidoreductase core subunit S3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921

G

nuclear receptor subfamily 1 group H member 3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,333,173...42,346,152
Ensembl chr18:42,333,202...42,341,236

G

nucleoporin 160

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:41,859,697...41,902,677
Ensembl chr18:41,855,670...41,902,247

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 chr18:42,378,692...42,399,225
Ensembl chr18:42,389,951...42,398,924

G

peroxisomal biogenesis factor 16

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:43,506,531...43,513,735
Ensembl chr18:43,507,193...43,516,235

G

PHD finger protein 21A

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:43,300,426...43,493,956
Ensembl chr18:43,335,986...43,492,828

G

proteasome 26S subunit, ATPase 3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,212,083...42,218,958

G

protein tyrosine phosphatase mitochondrial 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,081,414...42,087,435
Ensembl chr18:42,081,262...42,087,423

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673

G

solute carrier family 35 member C1

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

PMID:1279426 PMID:9536098 PMID:11213799 PMID:11326279 PMID:11326280 More...

NCBI chr18:43,603,695...43,611,381
Ensembl chr18:43,605,315...43,610,229

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,221,311...42,229,992
Ensembl chr18:42,222,333...42,227,361

G

Spi-1 proto-oncogene

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,253,849...42,269,497
Ensembl chr18:42,253,811...42,269,727

G

zinc finger protein 408

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chr18:42,808,820...42,813,422
Ensembl chr18:42,808,874...42,813,276

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

PMID:25741868 PMID:28492532 PMID:30653653 PMID:32157688

NCBI chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730

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 chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429

G

component of oligomeric golgi complex 7

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2E

PMID:9536098 PMID:15107842 PMID:16199547 PMID:17356545 PMID:17395513 More...

NCBI chr 6:22,355,149...22,435,383
Ensembl chr 6:22,355,296...22,438,984

G

glutamyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 6:22,276,189...22,299,865
Ensembl chr 6:22,276,230...22,297,428

G

golgi associated, gamma adaptin ear containing, ARF binding protein 2

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 6:22,309,565...22,342,469
Ensembl chr 6:22,309,537...22,341,632

G

NADH:ubiquinone oxidoreductase subunit AB1

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 6:22,242,398...22,253,048

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

sodium channel epithelial 1 subunit beta

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349

G

sodium channel epithelial 1 subunit gamma

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 6:22,566,568...22,593,479
Ensembl chr 6:22,567,711...22,593,503

G

ubiquitin family domain containing 1

ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation

NCBI chr 6:22,242,974...22,276,051
Ensembl chr 6:22,261,568...22,275,923

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 chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240

G

solute carrier family 35 member A1

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

PMID:15576474 PMID:21864493 PMID:23873973 PMID:24033266 PMID:25552652 More...

NCBI chr12:46,968,664...46,992,620
Ensembl chr12:46,968,521...46,991,872

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

ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G

PMID:9536098 PMID:16199547 PMID:16537452 PMID:17576681 PMID:19008299 More...

NCBI chr 9:6,965,583...6,990,905
Ensembl chr 9:6,957,192...6,978,309

G

VCP nuclear cofactor family member 1

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

PMID:25741868 PMID:28492532

NCBI chr 9:6,948,612...6,966,741

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

ClinVar Annotator: match by term: CDG IIh | ClinVar Annotator: match by term: COG8-CDG

PMID:16199547 PMID:17220172 PMID:17331980 PMID:21811164 PMID:23806237 More...

NCBI chr 5:80,316,440...80,323,532

G

peptide deformylase, mitochondrial

ClinVar Annotator: match by term: COG8-CDG

NCBI chr 5:80,323,573...80,325,665

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: CDG IIi | ClinVar Annotator: match by term: COG5-CDG

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19690088 PMID:23228021 More...

NCBI chr18:13,039,889...13,338,958
Ensembl chr18:13,039,889...13,338,538

G

dihydrouridine synthase 4 like

ClinVar Annotator: match by term: COG5-CDG

PMID:23228021 PMID:25741868 PMID:28492532

NCBI chr18:13,023,755...13,040,180
Ensembl chr18:13,023,744...13,039,817

G

G protein-coupled receptor 22

ClinVar Annotator: match by term: COG5-CDG

PMID:23228021 PMID:28492532

NCBI chr18:13,124,646...13,131,441
Ensembl chr18:13,126,050...13,127,351

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: COG5-CDG

NCBI chr18:13,339,359...13,368,105
Ensembl chr18:13,340,287...13,367,915

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

PMID:8074143 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19494034 More...

NCBI chr 5:76,463,465...76,490,406
Ensembl chr 5:76,463,465...76,490,376

G

fucose kinase

ClinVar Annotator: match by term: COG4-CDG

NCBI chr 5:76,442,597...76,463,165
Ensembl chr 5:76,443,411...76,462,771

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 2

ClinVar Annotator: match by term: COG4-CDG

NCBI chr 5:76,377,782...76,427,998
Ensembl chr 5:76,379,702...76,394,525

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 chr13:48,574,839...48,611,770
Ensembl chr13:48,572,220...48,611,775

G

ADP ribosylation factor like GTPase 9

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr13:48,719,660...48,738,367
Ensembl chr13:48,719,798...48,738,294

G

centrosomal protein 135

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:48,202,649...48,280,995
Ensembl chr13:48,202,765...48,280,014

G

clock circadian regulator

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:47,684,409...47,825,733
Ensembl chr13:47,691,709...47,758,784

G

capping protein inhibiting regulator of actin dynamics

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

G

exocyst complex component 1

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:48,109,773...48,177,070
Ensembl chr13:48,109,810...48,176,177

G

HOP homeobox

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr13:48,829,161...48,854,502
Ensembl chr13:48,829,338...48,858,643

G

kinase insert domain receptor

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

G

neuromedin U

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

G

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:48,296,232...48,682,650

G

phosducin like 2

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:47,832,161...47,861,716
Ensembl chr13:47,832,166...47,861,614

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278

G

phosphoribosyl pyrophosphate amidotransferase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:48,618,460...48,656,164
Ensembl chr13:48,620,714...48,655,780

G

RE1 silencing transcription factor

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388

G

serine peptidase inhibitor, Kazal type 2

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr13:48,952,869...48,964,862
Ensembl chr13:48,944,135...48,964,831

G

sperm microtubule associated protein 2 like

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chr13:48,751,044...48,796,489
Ensembl chr13:48,750,444...48,795,873

G

steroid 5 alpha-reductase 3

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:47,627,854...47,643,116
Ensembl chr13:47,627,913...47,642,566

G

signal recognition particle 72

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chr13:48,688,295...48,717,826
Ensembl chr13:48,688,295...48,717,824

G

transmembrane protein 165

ClinVar Annotator: match by term: TMEM165-CDG

PMID:9536098 PMID:17576681 PMID:22521416 PMID:22683087 PMID:25741868 More...

NCBI chr13:47,658,408...47,683,519
Ensembl chr13:47,658,330...47,682,866

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

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20605848 PMID:23430903 More...

NCBI chr25:1,428,277...1,524,734
Ensembl chr25:1,331,966...1,524,747

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:42,935,831...42,946,248
Ensembl chr X:42,935,815...42,946,149

G

A-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,180,082...41,191,579
Ensembl chr X:41,180,250...41,191,310

G

bone morphogenetic protein 15

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:43,765,126...43,771,277
Ensembl chr X:43,764,777...43,771,287

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:42,302,971...42,327,787
Ensembl chr X:42,303,158...42,326,774

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:42,206,553...42,217,607
Ensembl chr X:42,210,804...42,216,993

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:42,329,320...42,343,270
Ensembl chr X:42,328,755...42,343,270

G

cyclin B3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:42,951,030...43,041,616
Ensembl chr X:42,949,558...43,012,122

G

cyclin dependent kinase 16

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:40,810,107...40,822,130
Ensembl chr X:40,810,500...40,842,700

G

complement factor properdin

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,245,868...41,252,194
Ensembl chr X:41,245,905...41,251,623

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:42,705,789...42,860,701
Ensembl chr X:42,704,627...42,853,812

G

diacylglycerol kinase kappa

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:43,041,721...43,229,431
Ensembl chr X:43,044,242...43,230,590

G

ETS transcription factor ELK1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,256,205...41,270,656
Ensembl chr X:41,257,482...41,270,776

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:42,024,867...42,029,649
Ensembl chr X:42,028,711...42,029,412

G

forkhead box P3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

FtsJ RNA 2'-O-methyltransferase 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,725,101...41,734,533
Ensembl chr X:41,725,130...41,734,378

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:41,991,321...41,998,319
Ensembl chr X:41,971,582...41,998,303

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:41,967,674...41,979,241
Ensembl chr X:41,967,812...41,979,243

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:42,248,121...42,266,747
Ensembl chr X:42,248,611...42,257,286

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:42,121,646...42,145,330
Ensembl chr X:42,121,301...42,145,218

G

histone deacetylase 6

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427

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:42,111,817...42,119,939
Ensembl chr X:42,111,837...42,118,375

G

putative protein SSX6

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,676,082...41,687,062

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:42,267,054...42,269,303
Ensembl chr X:42,266,715...42,269,300

G

microRNA mir-502

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:42,785,601...42,785,659
Ensembl chr X:42,785,587...42,785,666

G

microRNA mir-532

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:42,774,680...42,774,738
Ensembl chr X:42,774,680...42,774,738

G

NADH:ubiquinone oxidoreductase subunit B11

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:40,744,408...40,746,831
Ensembl chr X:40,744,408...40,746,837

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:42,079,396...42,109,129
Ensembl chr X:42,081,561...42,108,612

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:42,030,708...42,036,363
Ensembl chr X:41,962,524...42,036,586

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:42,072,495...42,077,741
Ensembl chr X:42,073,457...42,077,543

G

proteolipid protein 2

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr 7:66,830,421...66,861,046

G

porcupine O-acyltransferase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:41,774,857...41,779,474
Ensembl chr X:41,762,692...41,779,476

G

porcupine O-acyltransferase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,763,126...41,773,892
Ensembl chr X:41,762,692...41,779,476

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:42,362,335...42,378,480
Ensembl chr X:42,362,370...42,378,012

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:42,056,660...42,060,508
Ensembl chr X:42,056,708...42,121,818

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:42,218,038...42,221,075
Ensembl chr X:42,218,046...42,226,422

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:42,276,316...42,285,428
Ensembl chr X:42,275,900...42,285,321

G

RNA binding motif protein 10

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:40,746,959...40,776,764
Ensembl chr X:40,747,178...40,776,742

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:41,806,072...41,809,803
Ensembl chr X:41,806,176...41,809,481

G

shroom family member 4

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:43,366,921...43,639,525
Ensembl chr X:43,369,472...43,639,302

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

PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 More...

NCBI chr X:42,060,568...42,071,330
Ensembl chr X:42,052,781...42,071,012

G

solute carrier family 38 member 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,709,441...41,718,702
Ensembl chr X:41,709,467...41,717,080

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:41,894,623...41,907,854
Ensembl chr X:41,893,045...41,906,403

G

synapsin I

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,191,571...41,241,557
Ensembl chr X:41,191,571...41,241,640

G

synaptophysin

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chr X:42,288,071...42,301,802
Ensembl chr X:42,288,148...42,299,487

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:41,782,774...41,799,083
Ensembl chr X:41,782,671...41,798,828

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:42,181,639...42,192,709
Ensembl chr X:42,183,037...42,193,892

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:42,052,592...42,056,601
Ensembl chr X:42,052,781...42,071,012

G

TIMP metallopeptidase inhibitor 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310

G

ubiquitin like modifier activating enzyme 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:40,784,240...40,807,072
Ensembl chr X:40,783,809...40,807,069

G

ubiquitin specific peptidase 11

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:40,826,648...40,842,700
Ensembl chr X:40,810,500...40,842,700

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:42,645,534...42,648,801

G

ubiquitously expressed prefoldin like chaperone

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,271,908...41,280,433
Ensembl chr X:41,271,908...41,280,340

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:41,882,240...41,890,053
Ensembl chr X:41,882,875...41,890,058

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:41,818,916...41,825,815
Ensembl chr X:41,818,950...41,825,811

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:42,221,261...42,237,535
Ensembl chr X:42,218,046...42,226,422

G

zinc finger protein 157

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:40,952,543...41,005,828
Ensembl chr X:40,952,636...41,005,133

G

zinc finger protein 182

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,557,362...41,584,417
Ensembl chr X:41,558,053...41,652,020

G

zinc finger protein 41

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,031,507...41,072,759
Ensembl chr X:41,032,742...41,071,949

G

zinc finger protein 630

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,640,010...41,652,522
Ensembl chr X:41,558,053...41,652,020

G

zinc finger protein 81

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,353,241...41,460,082
Ensembl chr X:41,353,440...41,593,082

G

zinc finger protein 81

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chr X:41,590,329...41,612,133
Ensembl chr X:41,353,440...41,593,082

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

ClinVar Annotator: match by term: SLC39A8-CDG

PMID:2809732 PMID:23806086 PMID:24088041 PMID:25687216 PMID:25741868 More...

NCBI chr32:23,727,920...23,801,459
Ensembl chr32:23,729,476...23,800,941

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

PMID:24033266 PMID:25741868 PMID:26833332 PMID:28492532 PMID:29759592 More...

NCBI chr25:19,027,014...19,031,467
Ensembl chr25:19,027,342...19,030,887

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

PMID:19067230 PMID:25741868 PMID:26639818 PMID:26833330 PMID:28492532 More...

NCBI chr 9:42,607,688...42,614,776
Ensembl chr 9:42,607,733...42,611,445

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 chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

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 chr 4:8,409,039...8,424,776
Ensembl chr 4:8,409,484...8,424,644

G

chromosome 4 C1orf131 homolog

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr 4:8,189,749...8,204,428
Ensembl chr 4:8,189,741...8,204,433

G

chromosome 4 C1orf198 homolog

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr 4:8,531,219...8,564,929
Ensembl chr 4:8,531,001...8,564,910

G

calpain 9

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr 4:8,613,222...8,653,534
Ensembl chr 4:8,612,682...8,653,467

G

component of oligomeric golgi complex 2

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

PMID:9536098 PMID:17576681 PMID:24784932 PMID:25741868 PMID:28492532 More...

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 chr 4:8,378,406...8,398,472

G

polypeptide N-acetylgalactosaminyltransferase 2

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr 4:9,055,753...9,243,741
Ensembl chr 4:8,977,509...9,281,048

G

glyceronephosphate O-acyltransferase

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr 4:8,155,186...8,190,403
Ensembl chr 4:8,155,191...8,190,229

G

piggyBac transposable element derived 5

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr 4:8,989,542...9,025,836
Ensembl chr 4:8,989,430...9,046,954

G

tripartite motif containing 67

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr 4:8,211,013...8,259,907
Ensembl chr 4:8,213,308...8,259,342

G

tetratricopeptide repeat domain 13

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chr 4:8,424,835...8,503,133
Ensembl chr 4:8,424,882...8,502,600

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:35,050,588...35,073,633
Ensembl chr X:35,050,606...35,073,067

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 chr 4:9,055,753...9,243,741
Ensembl chr 4:8,977,509...9,281,048

Congenital Disorder of Glycosylation Type IIv

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ER degradation enhancing alpha-mannosidase like protein 3

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

PMID:25741868 PMID:34143952

NCBI chr 7:17,918,902...17,991,270
Ensembl chr 7:17,922,334...17,991,596

Congenital Disorder of Glycosylation Type IIw

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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 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004

Congenital Disorder of Glycosylation Type IIy

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guided entry of tail-anchored proteins factor 4

ClinVar Annotator: match by term: CDG IIy

PMID:25741868 PMID:32395830

NCBI chr 6:15,976,010...15,994,725
Ensembl chr 6:15,976,568...15,995,115

Congenital Disorder of Glycosylation Type IIz

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G

calcium modulating ligand

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

NCBI chr11:22,818,699...22,829,737
Ensembl chr11:22,818,743...22,829,736

Congenital Disorder of Glycosylation with Defective Fucosylation

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fucose kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation

NCBI chr 5:76,442,597...76,463,165
Ensembl chr 5:76,443,411...76,462,771

Congenital Disorder of Glycosylation with Defective Fucosylation 1

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PubMed Reference(s)

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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 8:39,670,629...39,972,729
Ensembl chr 8:39,825,246...39,972,612

Congenital Disorder of Glycosylation with Defective Fucosylation 2

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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 chr 5:76,442,597...76,463,165
Ensembl chr 5:76,443,411...76,462,771

developmental and epileptic encephalopathy 36

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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

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More...

NCBI chr X:84,752,284...84,825,414

G

calpain 6

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chr X:84,351,483...84,377,365
Ensembl chr X:84,351,480...84,378,183

G

chordin like 1

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chr X:83,816,131...83,936,497
Ensembl chr X:83,817,880...83,936,949

G

doublecortin

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chr X:84,408,762...84,541,157
Ensembl chr X:84,408,895...84,517,827

G

p21 (RAC1) activated kinase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chr X:84,074,146...84,335,699
Ensembl chr X:84,074,001...84,329,951

developmental and epileptic encephalopathy 50

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carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25678555 PMID:25741868 More...

NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635

Gillessen-Kaesbach-Nishimura Dysplasia

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G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome

PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More...

NCBI chr 5:21,211,533...21,323,851

immunodeficiency 47

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ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Immunodeficiency 47

PMID:25741868 PMID:27231034 PMID:28492532 PMID:28688840 PMID:29192153 More...

NCBI chr X:122,133,314...122,140,949
Ensembl chr X:122,133,325...122,140,447

NGLY1-deficiency

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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

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22581936 More...

NCBI chr23:18,044,479...18,101,937
Ensembl chr23:18,039,456...18,099,660

G

retinoic acid receptor beta

ClinVar Annotator: match by term: Congenital disorder of deglycosylation

PMID:24651605 PMID:28492532

NCBI chr23:18,207,253...18,931,128
Ensembl chr23:18,207,760...18,482,652

G

DNA topoisomerase II beta

ClinVar Annotator: match by term: Congenital disorder of deglycosylation

PMID:24651605 PMID:28492532

NCBI chr23:18,159,521...18,206,413
Ensembl chr23:18,146,095...18,206,287

Term paths to the root

Path 1
Term	Annotations
disease	17773
physical disorder	4879
congenital disorder of glycosylation	538
Congenital Disorder of Glycosylation with Defective Fucosylation +	2
Congenital Disorder of Glycosylation, Type I/IIx	0
Gillessen-Kaesbach-Nishimura Dysplasia	1
NGLY1-deficiency	3
Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities	0
alacrima, achalasia, and impaired intellectual development syndrome	50
congenital disorder of glycosylation type I +	266
congenital disorder of glycosylation type II +	238
developmental and epileptic encephalopathy 50	1
Path 2
Term	Annotations
disease	17773
Developmental Disease	17564
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	17452
genetic disease	17430
inherited metabolic disorder	5527
carbohydrate metabolic disorder	2718
congenital disorder of glycosylation	538
Congenital Disorder of Glycosylation with Defective Fucosylation +	2
Congenital Disorder of Glycosylation, Type I/IIx	0
Gillessen-Kaesbach-Nishimura Dysplasia	1
NGLY1-deficiency	3
Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities	0
alacrima, achalasia, and impaired intellectual development syndrome	50
congenital disorder of glycosylation type I +	266
congenital disorder of glycosylation type II +	238
developmental and epileptic encephalopathy 50	1

paths to the root