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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Genes (520)

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 chrNW_004936530:4,948,130...4,957,306

G

ALG11 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chrNW_004936565:4,763,894...4,775,360
Ensembl chrNW_004936565:4,763,779...4,778,250

G

ALG12 alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936629:844,277...864,874

G

ALG13 UDP-N-acetylglucosaminyltransferase subunit

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:32681751 PMID:33734437

NCBI chrNW_004936499:3,558,273...3,629,570
Ensembl chrNW_004936499:3,558,236...3,629,592

G

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

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936524:7,725,444...7,730,869
Ensembl chrNW_004936524:7,725,438...7,731,486

G

ALG3 alpha-1,3- mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936578:5,616,617...5,622,206
Ensembl chrNW_004936578:5,616,617...5,622,206

G

ALG6 alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936692:992,313...1,038,760
Ensembl chrNW_004936692:992,188...1,038,776

G

ALG8 alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chrNW_004936498:6,651,035...6,689,305
Ensembl chrNW_004936498:6,649,663...6,689,305

G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936612:2,554,158...2,661,896
Ensembl chrNW_004936612:2,554,226...2,650,037

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chrNW_004936565:4,694,294...4,763,661
Ensembl chrNW_004936565:4,694,281...4,763,773

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 chrNW_004936524:1,659,791...1,713,971
Ensembl chrNW_004936524:1,659,608...1,714,102

G

C1GALT1 specific chaperone 1

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

PMID:25741868 PMID:37216524

NCBI chrNW_004936479:9,416,192...9,420,327
Ensembl chrNW_004936479:9,416,284...9,420,177

G

component of oligomeric golgi complex 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chrNW_004936655:1,020,363...1,032,847
Ensembl chrNW_004936655:1,017,169...1,032,816

G

component of oligomeric golgi complex 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936479:16,554,816...16,855,211
Ensembl chrNW_004936479:16,554,569...16,858,500

G

component of oligomeric golgi complex 6

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chrNW_004936565:5,996,031...6,069,517
Ensembl chrNW_004936565:5,996,270...6,069,426

G

component of oligomeric golgi complex 7

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936501:8,069,335...8,133,568
Ensembl chrNW_004936501:8,069,319...8,133,024

G

component of oligomeric golgi complex 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936475:19,449,007...19,456,188
Ensembl chrNW_004936475:19,449,172...19,456,168
Ensembl chrNW_004936475:19,449,172...19,456,168

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 chrNW_004936474:6,589,939...6,597,951
Ensembl chrNW_004936474:6,589,798...6,598,379

G

dynein axonemal assembly factor 2

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chrNW_004936583:386,806...394,650
Ensembl chrNW_004936583:387,189...394,910

G

dolichol kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936487:16,406,385...16,408,546
Ensembl chrNW_004936487:16,406,529...16,408,145

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 chrNW_004936542:4,049,107...4,054,100
Ensembl chrNW_004936542:4,048,979...4,054,105

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 chrNW_004936514:3,832,284...3,850,064

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 chrNW_004936530:4,957,445...4,984,816

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936479:16,855,368...16,886,210
Ensembl chrNW_004936479:16,854,852...16,886,477

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 chrNW_004936542:4,037,888...4,046,089
Ensembl chrNW_004936542:4,037,201...4,050,810

G

magnesium transporter 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

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

NCBI chrNW_004936683:2,737,545...2,775,679
Ensembl chrNW_004936683:2,735,217...2,775,679

G

mannosidase alpha class 2B member 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936477:18,543,541...18,571,002
Ensembl chrNW_004936477:18,543,484...18,571,014

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 chrNW_004936583:396,787...399,697
Ensembl chrNW_004936583:398,190...399,533

G

mannose-P-dolichol utilization defect 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936595:862,240...865,505
Ensembl chrNW_004936595:862,241...866,607

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936471:33,845,003...33,854,263
Ensembl chrNW_004936471:33,844,815...33,854,366

G

maestro heat like repeat family member 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936561:4,020,258...4,083,045
Ensembl chrNW_004936561:4,020,333...4,079,808

G

nucleoporin 188

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936487:16,408,523...16,462,916
Ensembl chrNW_004936487:16,408,518...16,462,923

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 chrNW_004936658:695,431...718,891
Ensembl chrNW_004936658:695,609...718,746

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 chrNW_004936692:1,160,836...1,221,270
Ensembl chrNW_004936692:1,160,623...1,221,746

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 chrNW_004936474:6,574,471...6,589,478
Ensembl chrNW_004936474:6,573,623...6,589,478

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 chrNW_004936530:7,630,668...7,648,658
Ensembl chrNW_004936530:7,630,637...7,648,676

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 chrNW_004936510:4,281,847...4,343,271
Ensembl chrNW_004936510:4,281,626...4,343,276

G

RFT1 homolog

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936473:3,807,895...3,856,760
Ensembl chrNW_004936473:3,814,112...3,856,792

G

ribophorin II

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936561:3,960,979...4,020,792
Ensembl chrNW_004936561:3,960,818...4,021,369

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 chrNW_004936510:4,344,765...4,376,009
Ensembl chrNW_004936510:4,341,758...4,376,109

G

solute carrier family 35 member A2

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936721:830,067...838,783
Ensembl chrNW_004936721:830,042...838,866

G

solute carrier family 35 member C1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936562:3,190,955...3,198,858
Ensembl chrNW_004936562:3,190,962...3,198,884

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 chrNW_004936542:3,980,538...3,987,039
Ensembl chrNW_004936542:3,980,236...3,987,066

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 chrNW_004936482:17,727,418...17,744,780
Ensembl chrNW_004936482:17,727,310...17,745,225

G

signal sequence receptor subunit 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004936519:3,556,103...3,571,706
Ensembl chrNW_004936519:3,555,224...3,571,638

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 chrNW_004936482:17,760,532...17,785,466
Ensembl chrNW_004936482:17,760,384...17,785,587

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 chrNW_004936573:4,823,939...4,977,997
Ensembl chrNW_004936573:4,823,923...4,977,812

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 chrNW_004936569:794,814...799,770
Ensembl chrNW_004936569:790,510...799,896

G

ATP binding cassette subfamily B member 6 (LAN blood group)

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

NCBI chrNW_004936569:1,628,649...1,635,599
Ensembl chrNW_004936569:1,625,374...1,635,694

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chrNW_004936569:1,645,780...1,653,526
Ensembl chrNW_004936569:1,650,088...1,653,522

G

actin related protein 2/3 complex subunit 2

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

NCBI chrNW_004936569:758,358...786,995
Ensembl chrNW_004936569:758,199...786,760

G

acid sensing ion channel subunit family member 4

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

NCBI chrNW_004936569:1,894,631...1,918,822
Ensembl chrNW_004936569:1,896,395...1,918,847

G

autophagy related 9A

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

NCBI chrNW_004936569:1,635,958...1,645,600
Ensembl chrNW_004936569:1,635,836...1,645,815

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chrNW_004936569:869,695...876,239

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chrNW_004936569:1,381,101...1,383,593
Ensembl chrNW_004936569:1,381,262...1,382,365

G

cilia and flagella associated protein 65

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

NCBI chrNW_004936569:1,449,654...1,462,582

G

chondroitin polymerizing factor

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

NCBI chrNW_004936569:1,918,999...1,923,735
Ensembl chrNW_004936569:1,918,961...1,923,724

G

CCR4-NOT transcription complex subunit 9

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

NCBI chrNW_004936569:1,023,057...1,048,968
Ensembl chrNW_004936569:1,022,979...1,049,136

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chrNW_004936569:1,587,164...1,592,857
Ensembl chrNW_004936569:1,586,286...1,592,857

G

crystallin beta A2

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

NCBI chrNW_004936569:1,410,634...1,413,735
Ensembl chrNW_004936569:1,410,450...1,413,888

G

CTD small phosphatase 1

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

NCBI chrNW_004936569:901,357...905,149
Ensembl chrNW_004936569:900,439...903,622

G

C-X-C motif chemokine receptor 1

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

NCBI chrNW_004936569:715,129...716,187
Ensembl chrNW_004936569:715,129...716,181

G

desmin

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

NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chrNW_004936569:1,689,926...1,697,179
Ensembl chrNW_004936569:1,689,507...1,698,954

G

aspartyl aminopeptidase

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

NCBI chrNW_004936569:1,770,958...1,780,224
Ensembl chrNW_004936569:1,770,936...1,780,507

G

FEV transcription factor, ETS family member

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

NCBI chrNW_004936569:1,402,513...1,408,699
Ensembl chrNW_004936569:1,402,513...1,406,067

G

galactosidase beta 1 like

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

NCBI chrNW_004936569:1,653,482...1,663,978
Ensembl chrNW_004936569:1,648,673...1,663,956

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 chrNW_004936569:1,881,975...1,889,179
Ensembl chrNW_004936569:1,881,774...1,889,932

G

G protein-coupled bile acid receptor 1

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

NCBI chrNW_004936569:792,393...794,764
Ensembl chrNW_004936569:793,426...794,421

G

Indian hedgehog signaling molecule

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

NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568

G

mitochondrial chaperone BCS1

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

NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708

G

sterol 26-hydroxylase, mitochondrial

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

NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589

G

non-homologous end joining factor 1

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

NCBI chrNW_004936569:1,494,783...1,578,587
Ensembl chrNW_004936569:1,495,446...1,578,590

G

obscurin like cytoskeletal adaptor 1

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

NCBI chrNW_004936569:1,930,189...1,949,735
Ensembl chrNW_004936569:1,929,069...1,949,708

G

phospholipase C delta 4

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

NCBI chrNW_004936569:1,058,092...1,097,662
Ensembl chrNW_004936569:1,058,611...1,099,577

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chrNW_004936569:799,963...865,462
Ensembl chrNW_004936569:799,926...865,700

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chrNW_004936569:1,258,678...1,266,925
Ensembl chrNW_004936569:1,259,105...1,266,925

G

protein tyrosine phosphatase receptor type N

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

NCBI chrNW_004936569:1,698,718...1,717,639
Ensembl chrNW_004936569:1,696,059...1,717,744

G

regulated endocrine specific protein 18

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

NCBI chrNW_004936569:1,731,756...1,737,679

G

reticulophagy regulator family member 2

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

NCBI chrNW_004936569:1,593,091...1,599,745
Ensembl chrNW_004936569:1,593,085...1,599,437

G

ring finger protein 25

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

NCBI chrNW_004936569:1,109,279...1,115,736
Ensembl chrNW_004936569:1,108,207...1,115,949

G

solute carrier family 11 member 1

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

NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977

G

solute carrier family 23 member 3

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

NCBI chrNW_004936569:1,578,977...1,585,903
Ensembl chrNW_004936569:1,578,993...1,585,454

G

striated muscle enriched protein kinase

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

NCBI chrNW_004936569:1,821,125...1,877,006
Ensembl chrNW_004936569:1,821,143...1,876,156

G

serine/threonine kinase 16

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

NCBI chrNW_004936569:1,664,031...1,667,648
Ensembl chrNW_004936569:1,663,634...1,668,521

G

serine/threonine kinase 36

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

NCBI chrNW_004936569:1,115,790...1,143,450
Ensembl chrNW_004936569:1,115,768...1,143,370

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chrNW_004936569:803,154...820,000
Ensembl chrNW_004936569:800,760...820,271

G

transmembrane protein 198

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

NCBI chrNW_004936569:1,923,924...1,930,058
Ensembl chrNW_004936569:1,924,002...1,930,058

G

tubulin tyrosine ligase like 4

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

NCBI chrNW_004936569:1,153,376...1,201,704
Ensembl chrNW_004936569:1,153,447...1,194,269

G

tubulin alpha 4a

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

NCBI chrNW_004936569:1,668,265...1,672,532
Ensembl chrNW_004936569:1,668,878...1,672,514

G

ubiquitin specific peptidase 37

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

NCBI chrNW_004936569:939,147...1,022,920
Ensembl chrNW_004936569:943,760...1,022,956

G

villin 1

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

NCBI chrNW_004936569:914,511...938,481
Ensembl chrNW_004936569:914,512...938,608

G

Wnt family member 10A

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

NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931

G

Wnt family member 6

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

NCBI chrNW_004936569:1,290,061...1,302,672
Ensembl chrNW_004936569:1,290,052...1,302,691

G

zinc finger AN1-type containing 2B

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

NCBI chrNW_004936569:1,625,712...1,628,533
Ensembl chrNW_004936569:1,625,374...1,632,642

G

zinc finger protein 142

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

NCBI chrNW_004936569:1,084,981...1,103,932

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 chrNW_004936530:7,543,743...7,621,392
Ensembl chrNW_004936530:7,543,682...7,622,667

G

insulin like growth factor 1

NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351

G

insulin like growth factor 2

NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167

G

insulin like growth factor binding protein acid labile subunit

NCBI chrNW_004936694:2,205,294...2,207,343
Ensembl chrNW_004936694:2,204,182...2,207,328

G

insulin like growth factor binding protein 3

NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306

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 chrNW_004936530:7,630,668...7,648,658
Ensembl chrNW_004936530:7,630,637...7,648,676

G

transmembrane protein 186

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

NCBI chrNW_004936530:7,626,747...7,630,581
Ensembl chrNW_004936530:7,623,191...7,630,592

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 chrNW_004936658:1,699,150...1,713,079
Ensembl chrNW_004936658:1,699,044...1,715,582

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 chrNW_004936824:1,098,792...1,103,607
Ensembl chrNW_004936824:1,098,792...1,103,797

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 chrNW_004936824:1,056,082...1,061,368
Ensembl chrNW_004936824:1,056,098...1,062,157

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 chrNW_004936824:1,019,124...1,020,871
Ensembl chrNW_004936824:1,019,154...1,020,961

G

centrosomal protein 85 like

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004936658:1,351,968...1,490,861
Ensembl chrNW_004936658:1,352,264...1,491,079

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 chrNW_004936824:734,499...741,674
Ensembl chrNW_004936824:734,488...769,010

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 chrNW_004936658:547,245...606,540
Ensembl chrNW_004936658:547,074...607,637

G

dermatan sulfate epimerase

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004936824:957,783...995,465
Ensembl chrNW_004936824:957,848...995,260

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 chrNW_004936658:7,938...13,751
Ensembl chrNW_004936658:10,040...13,799

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 chrNW_004936658:614,711...655,874
Ensembl chrNW_004936658:614,476...655,905

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 chrNW_004936658:38,931...58,534
Ensembl chrNW_004936658:38,931...58,534

G

karyopherin subunit alpha 5

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

PMID:28492532 PMID:29100083 PMID:31273557

G

5'-nucleotidase domain-containing protein 1

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004936824:805,647...841,113
Ensembl chrNW_004936824:723,160...839,436

G

RWD domain-containing protein 1

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004936824:1,117,865...1,136,974
Ensembl chrNW_004936824:1,118,020...1,136,804

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 chrNW_004936658:1,657,226...1,734,150

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 chrNW_004936658:695,431...718,891
Ensembl chrNW_004936658:695,609...718,746

G

phospholamban

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004936658:1,443,626...1,453,770
Ensembl chrNW_004936658:1,443,795...1,453,839

G

regulatory factor X6

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004936658:94,589...145,135
Ensembl chrNW_004936658:94,589...145,135

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 chrNW_004936658:382,025...506,818
Ensembl chrNW_004936658:382,261...506,818

G

radial spoke head component 4A

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004937068:45,105...59,540
Ensembl chrNW_004937068:45,181...57,159

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 chrNW_004936658:851,751...1,238,263
Ensembl chrNW_004936658:1,076,196...1,238,276

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 chrNW_004936824:1,048,636...1,090,900
Ensembl chrNW_004936824:1,046,502...1,091,218

G

TSPY like 1

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004936824:857,696...860,604
Ensembl chrNW_004936824:859,235...860,503

G

TSPY like 4

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004936824:842,698...846,653
Ensembl chrNW_004936824:845,325...846,560

G

vestigial like family member 2

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004936658:362,377...370,298
Ensembl chrNW_004936658:362,296...370,322

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 chrNW_004937068:21,312...42,266
Ensembl chrNW_004937068:21,276...42,264

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 chrNW_004936471:33,854,954...33,863,391
Ensembl chrNW_004936471:33,857,555...33,862,688

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 chrNW_004936471:33,845,003...33,854,263
Ensembl chrNW_004936471:33,844,815...33,854,366

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 chrNW_004936692:992,313...1,038,760
Ensembl chrNW_004936692:992,188...1,038,776

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 chrNW_004936683:2,737,545...2,775,679
Ensembl chrNW_004936683:2,735,217...2,775,679

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 chrNW_004936578:5,838,044...5,916,287
Ensembl chrNW_004936578:5,837,993...5,916,274

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 chrNW_004936578:5,670,395...5,680,043
Ensembl chrNW_004936578:5,669,738...5,680,043

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 chrNW_004936578:5,616,617...5,622,206
Ensembl chrNW_004936578:5,616,617...5,622,206

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 chrNW_004936578:5,680,748...5,691,666
Ensembl chrNW_004936578:5,682,541...5,689,521

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 chrNW_004936566:271,807...289,526
Ensembl chrNW_004936566:273,714...274,847

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 chrNW_004936578:5,606,507...5,607,850
Ensembl chrNW_004936578:5,606,536...5,607,850

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 chrNW_004936578:5,525,461...5,539,351
Ensembl chrNW_004936578:5,525,601...5,539,472

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 chrNW_004936578:5,693,433...5,710,137
Ensembl chrNW_004936578:5,693,342...5,710,143

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 chrNW_004936578:5,716,333...5,724,869
Ensembl chrNW_004936578:5,715,512...5,725,096

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 chrNW_004936578:5,548,526...5,567,220
Ensembl chrNW_004936578:5,548,500...5,567,339

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 chrNW_004936578:5,540,704...5,547,944
Ensembl chrNW_004936578:5,539,582...5,548,001

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 chrNW_004936578:6,116,117...6,151,244
Ensembl chrNW_004936578:6,116,068...6,151,297

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 chrNW_004936578:6,226,533...6,284,343
Ensembl chrNW_004936578:6,226,495...6,284,293

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 chrNW_004936566:365,326...394,985

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 chrNW_004936578:5,586,086...5,615,940
Ensembl chrNW_004936578:5,585,443...5,616,099

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 chrNW_004936578:5,995,629...6,003,148
Ensembl chrNW_004936578:5,995,529...6,000,692

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 chrNW_004936566:409,558...468,898
Ensembl chrNW_004936566:409,462...469,225

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 chrNW_004936566:126,515...350,018
Ensembl chrNW_004936566:125,865...351,572

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 chrNW_004936578:5,945,765...5,992,972
Ensembl chrNW_004936578:5,945,635...5,993,143

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 chrNW_004936578:5,519,482...5,528,355
Ensembl chrNW_004936578:5,519,462...5,523,744

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 chrNW_004936578:5,570,969...5,580,334
Ensembl chrNW_004936578:5,570,817...5,580,617

G

thrombopoietin

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

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

NCBI chrNW_004936578:5,508,669...5,515,984
Ensembl chrNW_004936578:5,509,111...5,515,103

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 chrNW_004936578:5,622,201...5,634,807
Ensembl chrNW_004936578:5,622,475...5,634,760

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 chrNW_004936578:6,004,427...6,075,414
Ensembl chrNW_004936578:6,006,018...6,075,449

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 chrNW_004936514:3,855,113...3,883,036
Ensembl chrNW_004936514:3,855,672...3,885,718

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 chrNW_004936514:3,832,284...3,850,064

G

molybdenum cofactor synthesis 3

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

PMID:10642597 PMID:10642602 PMID:28492532

NCBI chrNW_004936514:3,830,189...3,832,194
Ensembl chrNW_004936514:3,830,627...3,832,009

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 chrNW_004936595:862,240...865,505
Ensembl chrNW_004936595:862,241...866,607

G

SRY-box transcription factor 15

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

NCBI chrNW_004936595:865,878...868,241
Ensembl chrNW_004936595:861,223...867,850

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 chrNW_004936629:360,845...362,499
Ensembl chrNW_004936629:360,305...362,846

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 chrNW_004936530:4,948,130...4,957,306

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 chrNW_004936629:844,277...864,874

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 chrNW_004936471:12,857,259...12,919,615
Ensembl chrNW_004936471:12,857,323...12,916,718

G

arylsulfatase A

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008

G

bromodomain containing 1

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

NCBI chrNW_004936629:909,716...958,620
Ensembl chrNW_004936629:909,680...958,896

G

choline kinase beta

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:242,876...246,806
Ensembl chrNW_004936629:243,095...247,093

G

ciliary microtubule associated protein 1B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:313,441...314,936
Ensembl chrNW_004936629:313,441...314,936

G

carnitine palmitoyltransferase 1B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:246,876...255,537
Ensembl chrNW_004936629:247,005...255,537

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 chrNW_004936629:835,802...844,009
Ensembl chrNW_004936629:835,789...844,049

G

DENN domain containing 6B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:498,120...509,758
Ensembl chrNW_004936629:498,127...509,751

G

histone deacetylase 10

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:562,038...567,709
Ensembl chrNW_004936629:562,022...567,822

G

kelch domain containing 7B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:282,194...284,017

G

lipase maturation factor 2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:332,772...336,927
Ensembl chrNW_004936629:332,768...337,062

G

protein SCO2 homolog, mitochondrial

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:318,581...320,804
Ensembl chrNW_004936629:318,581...320,795

G

mitogen-activated protein kinase 11

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:542,143...549,861
Ensembl chrNW_004936629:545,755...549,837

G

mitogen-activated protein kinase 12

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:552,302...560,245
Ensembl chrNW_004936629:552,296...560,461

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 chrNW_004936629:201,269...211,058
Ensembl chrNW_004936629:200,534...211,064

G

myo-inositol oxygenase

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:355,517...357,678
Ensembl chrNW_004936629:355,362...357,697

G

modulator of VRAC current 1

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:696,592...719,363
Ensembl chrNW_004936629:696,451...719,416

G

Mov10 like RNA helicase 1

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:631,368...693,598
Ensembl chrNW_004936629:633,418...693,598

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 chrNW_004936629:320,885...327,290
Ensembl chrNW_004936629:321,011...327,607

G

pannexin 2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:618,758...626,446
Ensembl chrNW_004936629:618,042...626,452

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 chrNW_004936629:805,343...808,028
Ensembl chrNW_004936629:805,338...808,028

G

plexin B2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:521,981...539,475
Ensembl chrNW_004936629:525,649...538,743

G

protein phosphatase 6 regulatory subunit 2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:394,535...462,710
Ensembl chrNW_004936629:395,419...435,453

G

SET binding factor 1

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:367,253...393,355
Ensembl chrNW_004936629:367,226...393,352

G

selenoprotein O

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:587,607...597,695
Ensembl chrNW_004936629:587,913...596,190

G

synaptonemal complex central element protein 3

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:264,077...281,119
Ensembl chrNW_004936629:264,077...281,119

G

TraB domain containing

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:604,483...610,441
Ensembl chrNW_004936629:604,339...610,454

G

tubulin tyrosine ligase like 8

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:720,842...766,247

G

tubulin gamma complex component 6

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:568,014...587,726
Ensembl chrNW_004936629:568,067...587,554

G

thymidine phosphorylase

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076

G

zinc finger BED-type containing 4

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

NCBI chrNW_004936629:864,945...888,665
Ensembl chrNW_004936629:864,993...888,159

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 chrNW_004936498:6,651,035...6,689,305
Ensembl chrNW_004936498:6,649,663...6,689,305

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 chrNW_004936524:7,725,444...7,730,869
Ensembl chrNW_004936524:7,725,438...7,731,486

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 chrNW_004936524:7,320,069...7,379,417
Ensembl chrNW_004936524:7,320,497...7,357,350

G

acidic nuclear phosphoprotein 32 family member B

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,735,047...6,757,874
Ensembl chrNW_004936524:6,742,853...6,756,038

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 chrNW_004936469:41,083,713...41,087,106
Ensembl chrNW_004936469:41,083,738...41,087,087

G

collagen type XV alpha 1 chain

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:7,481,541...7,591,452
Ensembl chrNW_004936524:7,481,761...7,590,544

G

coronin 2A

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,819,641...6,845,854
Ensembl chrNW_004936524:6,820,063...6,848,371

G

endoplasmic reticulum protein 44

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:8,387,234...8,470,776
Ensembl chrNW_004936524:8,383,891...8,470,855

G

forkhead box E1

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,619,128...6,620,278
Ensembl chrNW_004936524:6,619,128...6,620,278

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 chrNW_004936524:6,944,923...7,297,833
Ensembl chrNW_004936524:6,943,147...7,297,835

G

polypeptide N-acetylgalactosaminyltransferase 12

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:7,379,381...7,410,136
Ensembl chrNW_004936524:7,379,305...7,410,376

G

hemogen

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,690,969...6,699,307

G

inversin

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620

G

N-acetylneuraminate synthase

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902

G

nuclear cap binding protein subunit 1

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,429,735...6,465,035
Ensembl chrNW_004936524:6,429,185...6,465,035

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 chrNW_004936524:8,252,321...8,290,747
Ensembl chrNW_004936524:8,252,381...8,289,157

G

SEC61 translocon subunit beta

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:7,731,033...7,739,410
Ensembl chrNW_004936524:7,731,058...7,740,310

G

syntaxin 17

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:8,324,562...8,381,244
Ensembl chrNW_004936524:8,324,569...8,376,114

G

TBC1 domain family member 2

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,873,625...6,918,171
Ensembl chrNW_004936524:6,875,085...6,918,082

G

tudor domain containing 7

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,268,640...6,323,059
Ensembl chrNW_004936524:6,249,016...6,322,815

G

transforming growth factor beta receptor 1

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097

G

transmembrane protein 199

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

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

NCBI chrNW_004936538:4,512,866...4,517,404
Ensembl chrNW_004936538:4,511,941...4,517,498

G

tropomodulin 1

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,347,089...6,403,996
Ensembl chrNW_004936524:6,326,400...6,403,057

G

tripartite motif containing 14

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,797,788...6,816,582
Ensembl chrNW_004936524:6,797,762...6,816,607

G

tRNA methyltransferase O

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,666,139...6,678,712
Ensembl chrNW_004936524:6,666,662...6,678,657

G

thiosulfate sulfurtransferase like domain containing 2

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,394,482...6,429,515
Ensembl chrNW_004936524:6,405,006...6,426,176

G

XPA, DNA damage recognition and repair factor

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

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,467,365...6,493,556
Ensembl chrNW_004936524:6,465,104...6,493,610

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 chrNW_004936542:4,090,282...4,106,025
Ensembl chrNW_004936542:4,091,283...4,105,370

G

C2CD2 like

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

PMID:22742743 PMID:28492532

NCBI chrNW_004936542:4,058,945...4,068,187

G

Cbl proto-oncogene

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

PMID:22742743 PMID:28492532

NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288

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 chrNW_004936542:4,049,107...4,054,100
Ensembl chrNW_004936542:4,048,979...4,054,105

G

dynein regulatory complex subunit 12 homolog

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

PMID:22742743 PMID:28492532

NCBI chrNW_004936542:4,127,054...4,131,148
Ensembl chrNW_004936542:4,126,890...4,131,179

G

histone H4 transcription factor

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

PMID:22742743 PMID:28492532

NCBI chrNW_004936542:4,072,771...4,083,973
Ensembl chrNW_004936542:4,072,624...4,084,064

G

hydroxymethylbilane synthase

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

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chrNW_004936542:4,037,888...4,046,089
Ensembl chrNW_004936542:4,037,201...4,050,810

G

NHERF family PDZ scaffold protein 4

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

PMID:22742743 PMID:28492532

NCBI chrNW_004936542:4,121,275...4,126,611

G

NLR family member X1

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

PMID:22742743 PMID:28492532

NCBI chrNW_004936542:4,105,980...4,121,176
Ensembl chrNW_004936542:4,109,136...4,122,978

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 chrNW_004936530:4,948,130...4,957,306

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 chrNW_004936530:4,957,445...4,984,816

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 chrNW_004936612:2,554,158...2,661,896
Ensembl chrNW_004936612:2,554,226...2,650,037

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 chrNW_004936558:1,104,627...1,138,487
Ensembl chrNW_004936558:1,103,135...1,134,573

G

cilia and flagella associated protein 68

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

PMID:25966638 PMID:28492532

NCBI chrNW_004936612:2,550,021...2,554,108
Ensembl chrNW_004936612:2,548,907...2,553,818

G

crystallin alpha B

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

PMID:25966638 PMID:28492532

NCBI chrNW_004936612:2,532,851...2,536,473
Ensembl chrNW_004936612:2,532,812...2,537,495

G

chromosome unknown C11orf52 homolog

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

PMID:25966638 PMID:28492532

NCBI chrNW_004936612:2,518,908...2,526,691

G

DIX domain containing 1

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

PMID:25966638 PMID:28492532

NCBI chrNW_004936612:2,440,357...2,518,596
Ensembl chrNW_004936612:2,443,525...2,517,114

G

dihydrolipoamide S-acetyltransferase

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

PMID:25966638 PMID:28492532

NCBI chrNW_004936612:2,395,452...2,437,592
Ensembl chrNW_004936612:2,393,071...2,437,522

G

heat shock protein family B (small) member 2

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

PMID:25966638 PMID:28492532

NCBI chrNW_004936612:2,530,827...2,532,148
Ensembl chrNW_004936612:2,519,697...2,532,195

G

tectonic family member 2

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

NCBI chrNW_004936558:1,142,608...1,168,755
Ensembl chrNW_004936558:1,142,598...1,168,881

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 chrNW_004936487:16,406,385...16,408,546
Ensembl chrNW_004936487:16,406,529...16,408,145

G

nucleoporin 188

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

NCBI chrNW_004936487:16,408,523...16,462,916
Ensembl chrNW_004936487:16,408,518...16,462,923

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 chrNW_004936529:3,518,337...3,531,842
Ensembl chrNW_004936529:3,518,322...3,531,845

G

BRCA1 associated protein 1

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

NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806

G

dynein axonemal heavy chain 1

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

NCBI chrNW_004936473:3,170,060...3,238,608
Ensembl chrNW_004936473:3,170,060...3,238,282

G

glycosyltransferase 8 domain containing 1

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

NCBI chrNW_004936473:3,483,948...3,495,611
Ensembl chrNW_004936473:3,483,948...3,495,773

G

glycerate kinase

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

NCBI chrNW_004936529:3,627,194...3,635,568
Ensembl chrNW_004936529:3,628,822...3,635,236

G

G protein nucleolar 3

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

NCBI chrNW_004936473:3,476,436...3,483,868
Ensembl chrNW_004936473:3,476,392...3,483,615

G

inter-alpha-trypsin inhibitor heavy chain 1

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

NCBI chrNW_004936473:3,534,071...3,548,554
Ensembl chrNW_004936473:3,533,819...3,548,411

G

inter-alpha-trypsin inhibitor heavy chain 3

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

NCBI chrNW_004936473:3,553,210...3,568,636
Ensembl chrNW_004936473:3,553,210...3,568,636

G

inter-alpha-trypsin inhibitor heavy chain 4

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

NCBI chrNW_004936473:3,573,282...3,589,345
Ensembl chrNW_004936473:3,573,384...3,589,345

G

musculoskeletal, embryonic nuclear protein 1

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

NCBI chrNW_004936473:3,592,259...3,594,717
Ensembl chrNW_004936473:3,592,253...3,594,329

G

NIMA related kinase 4

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

NCBI chrNW_004936473:3,499,858...3,527,918
Ensembl chrNW_004936473:3,499,754...3,528,329

G

nischarin

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

NCBI chrNW_004936473:3,295,515...3,331,324

G

5'-nucleotidase domain containing 2

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

NCBI chrNW_004936473:3,363,134...3,372,535
Ensembl chrNW_004936473:3,360,009...3,373,462

G

polybromo 1

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

NCBI chrNW_004936473:3,382,618...3,476,049
Ensembl chrNW_004936473:3,382,260...3,476,052

G

PHD finger protein 7

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

NCBI chrNW_004936473:3,248,004...3,261,491
Ensembl chrNW_004936473:3,247,998...3,261,483

G

POC1 centriolar protein A

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

NCBI chrNW_004936529:3,423,588...3,495,698
Ensembl chrNW_004936529:3,422,788...3,495,655

G

protein phosphatase, Mg2+/Mn2+ dependent 1M

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

NCBI chrNW_004936529:3,560,108...3,569,450
Ensembl chrNW_004936529:3,560,810...3,566,287

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 chrNW_004936473:3,807,895...3,856,760
Ensembl chrNW_004936473:3,814,112...3,856,792

G

semaphorin 3G

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

NCBI chrNW_004936473:3,272,213...3,284,601
Ensembl chrNW_004936473:3,271,904...3,284,735

G

Scm like with four mbt domains 1

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

NCBI chrNW_004936473:3,650,096...3,784,191
Ensembl chrNW_004936473:3,654,555...3,781,577

G

small integral membrane protein 4

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

NCBI chrNW_004936473:3,374,954...3,378,800
Ensembl chrNW_004936473:3,374,966...3,378,797

G

signal peptidase complex subunit 1

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

NCBI chrNW_004936473:3,495,964...3,497,573
Ensembl chrNW_004936473:3,496,035...3,497,787

G

stabilin 1

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

NCBI chrNW_004936473:3,333,988...3,363,256
Ensembl chrNW_004936473:3,334,032...3,363,117

G

STIM activating enhancer

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

NCBI chrNW_004936473:3,595,669...3,647,971
Ensembl chrNW_004936473:3,595,299...3,648,014

G

troponin C1, slow skeletal and cardiac type

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

NCBI chrNW_004936473:3,290,961...3,293,920
Ensembl chrNW_004936473:3,290,913...3,294,132

G

WD repeat domain 82

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

NCBI chrNW_004936529:3,569,354...3,591,815
Ensembl chrNW_004936529:3,568,184...3,592,084

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 chrNW_004936565:4,763,894...4,775,360
Ensembl chrNW_004936565:4,763,779...4,778,250

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 chrNW_004936565:4,694,294...4,763,661
Ensembl chrNW_004936565:4,694,281...4,763,773

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 chrNW_004936482:17,727,418...17,744,780
Ensembl chrNW_004936482:17,727,310...17,745,225

congenital disorder of glycosylation Ir

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 4 family member A1

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

NCBI chrNW_004936474:5,217,601...5,246,718
Ensembl chrNW_004936474:5,218,686...5,246,664

G

alkaline phosphatase, biomineralization associated

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

NCBI chrNW_004936474:7,209,196...7,229,899
Ensembl chrNW_004936474:7,209,093...7,229,989

G

complement C1q A chain

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

NCBI chrNW_004936474:8,007,953...8,010,591
Ensembl chrNW_004936474:8,008,534...8,010,191

G

calcium/calmodulin dependent protein kinase II inhibitor 1

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

NCBI chrNW_004936474:6,463,691...6,466,641
Ensembl chrNW_004936474:6,461,050...6,466,641

G

capping actin protein of muscle Z-line subunit beta

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

NCBI chrNW_004936474:5,594,193...5,656,665
Ensembl chrNW_004936474:5,594,152...5,709,315

G

cytidine deaminase

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

NCBI chrNW_004936474:6,543,295...6,564,575
Ensembl chrNW_004936474:6,543,220...6,566,308

G

cell division cycle 42

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

NCBI chrNW_004936474:7,556,765...7,598,687

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 chrNW_004936474:6,589,939...6,597,951
Ensembl chrNW_004936474:6,589,798...6,598,379

G

endothelin converting enzyme 1

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

NCBI chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005

G

eukaryotic translation initiation factor 4 gamma 3

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

NCBI chrNW_004936474:6,718,719...7,004,066
Ensembl chrNW_004936474:6,719,370...7,004,972

G

ER membrane protein complex subunit 1

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

NCBI chrNW_004936474:5,512,100...5,539,198
Ensembl chrNW_004936474:5,511,661...5,539,237

G

EPH receptor A8

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

NCBI chrNW_004936474:7,928,700...7,981,961
Ensembl chrNW_004936474:7,928,700...7,981,962

G

family with sequence similarity 43 member B

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

NCBI chrNW_004936474:6,516,059...6,519,749
Ensembl chrNW_004936474:6,517,785...6,518,771

G

heterochromatin protein 1 binding protein 3

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

NCBI chrNW_004936474:6,665,989...6,699,722
Ensembl chrNW_004936474:6,665,507...6,700,152

G

heparan sulfate proteoglycan 2

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

NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851

G

5-hydroxytryptamine receptor 6

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

NCBI chrNW_004936474:5,848,719...5,858,520
Ensembl chrNW_004936474:5,848,707...5,859,749

G

intermediate filament family orphan 2

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

NCBI chrNW_004936474:5,248,342...5,290,908
Ensembl chrNW_004936474:5,248,336...5,291,096

G

kinesin family member 17

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

NCBI chrNW_004936474:6,598,641...6,642,491
Ensembl chrNW_004936474:6,600,209...6,642,496

G

low density lipoprotein receptor class A domain containing 2

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

NCBI chrNW_004936474:7,375,439...7,407,318

G

complement C1q subcomponent subunit C

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

NCBI chrNW_004936474:8,013,395...8,016,937
Ensembl chrNW_004936474:8,013,359...8,016,959

G

aflatoxin B1 aldehyde reductase member 2

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

NCBI chrNW_004936474:5,565,715...5,573,048

G

group IIF secretory phospholipase A2

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

NCBI chrNW_004936474:6,186,604...6,192,621
Ensembl chrNW_004936474:6,186,604...6,192,621

G

uncharacterized LOC101976106

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

NCBI chrNW_004936474:6,207,021...6,212,347

G

mitochondrial contact site and cristae organizing system subunit 10

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

NCBI chrNW_004936474:5,787,939...5,816,133
Ensembl chrNW_004936474:5,788,004...5,815,902

G

MRT4 homolog, ribosome maturation factor

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

NCBI chrNW_004936474:5,539,306...5,546,085
Ensembl chrNW_004936474:5,539,246...5,546,087

G

mitochondrial E3 ubiquitin protein ligase 1

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

NCBI chrNW_004936474:6,479,640...6,486,080
Ensembl chrNW_004936474:6,477,504...6,486,660

G

NBL1, DAN family BMP antagonist

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

NCBI chrNW_004936474:5,820,798...5,843,291
Ensembl chrNW_004936474:5,840,240...5,859,749

G

OTU deubiquitinase 3

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

NCBI chrNW_004936474:5,994,019...6,010,101
Ensembl chrNW_004936474:5,994,076...6,011,799

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 chrNW_004936474:6,574,471...6,589,478
Ensembl chrNW_004936474:6,573,623...6,589,478

G

phospholipase A2 group IIA

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

NCBI chrNW_004936474:6,091,978...6,095,961
Ensembl chrNW_004936474:6,091,941...6,096,057

G

phospholipase A2 group IID

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

NCBI chrNW_004936474:6,167,507...6,172,750
Ensembl chrNW_004936474:6,167,507...6,172,750

G

phospholipase A2 group V

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

NCBI chrNW_004936474:6,131,915...6,150,810
Ensembl chrNW_004936474:6,131,884...6,150,819

G

RAP1 GTPase activating protein

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

NCBI chrNW_004936474:7,242,528...7,284,342
Ensembl chrNW_004936474:7,242,824...7,284,395

G

ring finger protein 186

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

NCBI chrNW_004936474:5,947,077...5,947,772

G

SH2 domain containing 5

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

NCBI chrNW_004936474:6,643,915...6,654,810
Ensembl chrNW_004936474:6,643,395...6,655,383

G

solute carrier family 66 member 1

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

NCBI chrNW_004936474:5,573,175...5,588,319
Ensembl chrNW_004936474:5,576,507...5,590,279

G

transmembrane and coiled-coil domains 4

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

NCBI chrNW_004936474:5,860,263...5,936,648
Ensembl chrNW_004936474:5,860,906...5,921,076

G

ubiquitin protein ligase E3 component n-recognin 4

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

NCBI chrNW_004936474:5,373,303...5,492,950
Ensembl chrNW_004936474:5,373,186...5,493,635

G

UBX domain protein 10

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

NCBI chrNW_004936474:6,219,665...6,227,617
Ensembl chrNW_004936474:6,224,767...6,225,612

G

ubiquitin specific peptidase 48

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

NCBI chrNW_004936474:7,307,475...7,376,086
Ensembl chrNW_004936474:7,307,439...7,376,074

G

von Willebrand factor A domain containing 5B1

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

NCBI chrNW_004936474:6,322,852...6,359,160
Ensembl chrNW_004936474:6,322,852...6,359,160

G

Wnt family member 4

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

NCBI chrNW_004936474:7,623,462...7,635,416
Ensembl chrNW_004936474:7,623,463...7,635,664

G

zinc finger and BTB domain containing 40

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

NCBI chrNW_004936474:7,848,735...7,926,506
Ensembl chrNW_004936474:7,848,750...7,928,396

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 chrNW_004936692:1,160,836...1,221,270
Ensembl chrNW_004936692:1,160,623...1,221,746

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 chrNW_004936487:15,507,663...15,517,401
Ensembl chrNW_004936487:15,507,498...15,517,469

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 chrNW_004936487:15,728,776...15,732,065
Ensembl chrNW_004936487:15,728,778...15,732,065

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 chrNW_004936487:15,446,864...15,450,750
Ensembl chrNW_004936487:15,446,858...15,452,796

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 chrNW_004936487:15,383,428...15,389,831
Ensembl chrNW_004936487:15,383,429...15,392,967

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 chrNW_004936487:15,728,982...15,748,737

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 chrNW_004936487:15,565,151...15,567,856
Ensembl chrNW_004936487:15,565,176...15,567,881

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 chrNW_004936487:15,569,729...15,601,508
Ensembl chrNW_004936487:15,572,309...15,601,411

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 chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488

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 chrNW_004936487:15,453,010...15,466,591
Ensembl chrNW_004936487:15,453,032...15,468,985

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 chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221

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 chrNW_004936487:15,181,009...15,217,952
Ensembl chrNW_004936487:15,180,811...15,217,406

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 chrNW_004936487:15,655,571...15,660,300
Ensembl chrNW_004936487:15,655,449...15,660,314

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 chrNW_004936487:15,221,207...15,269,515
Ensembl chrNW_004936487:15,221,241...15,269,521

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 chrNW_004936487:15,554,565...15,562,131
Ensembl chrNW_004936487:15,554,565...15,562,131

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 chrNW_004936487:15,703,179...15,708,408
Ensembl chrNW_004936487:15,703,153...15,707,697

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 chrNW_004936487:15,389,607...15,392,525
Ensembl chrNW_004936487:15,386,768...15,391,384

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 chrNW_004936487:15,410,878...15,440,326
Ensembl chrNW_004936487:15,410,877...15,440,347

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 chrNW_004936487:15,661,133...15,696,267
Ensembl chrNW_004936487:15,661,079...15,696,406

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 chrNW_004936487:15,541,994...15,551,245
Ensembl chrNW_004936487:15,541,735...15,551,305

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 chrNW_004936487:15,522,286...15,534,934
Ensembl chrNW_004936487:15,522,266...15,539,947

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 chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713

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 chrNW_004936487:15,405,089...15,408,971
Ensembl chrNW_004936487:15,404,065...15,408,997

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 chrNW_004936487:15,391,383...15,404,997
Ensembl chrNW_004936487:15,392,228...15,404,752

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 chrNW_004936473:4,164,633...4,479,866
Ensembl chrNW_004936473:4,037,533...4,478,073

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 chrNW_004936743:1,975,847...2,000,100

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 chrNW_004936473:22,197,625...22,288,941
Ensembl chrNW_004936473:22,197,321...22,288,941

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 chrNW_004936809:666,231...675,279
Ensembl chrNW_004936809:666,337...675,214

G

plexin B3

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

NCBI chrNW_004936809:645,569...659,850
Ensembl chrNW_004936809:644,049...659,859

G

SRSF protein kinase 3

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

NCBI chrNW_004936809:661,264...666,198
Ensembl chrNW_004936809:661,264...666,188

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 chrNW_004936809:675,178...679,245
Ensembl chrNW_004936809:675,049...679,707

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 chrNW_004936580:4,664,653...4,665,199
Ensembl chrNW_004936580:4,664,653...4,665,188

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 chrNW_004936530:4,948,130...4,957,306

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 chrNW_004936530:7,630,668...7,648,658
Ensembl chrNW_004936530:7,630,637...7,648,676

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 chrNW_004936524:7,725,444...7,730,869
Ensembl chrNW_004936524:7,725,438...7,731,486

G

ankyrin repeat and sterile alpha motif domain containing 6

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:7,320,069...7,379,417
Ensembl chrNW_004936524:7,320,497...7,357,350

G

acidic nuclear phosphoprotein 32 family member B

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,735,047...6,757,874
Ensembl chrNW_004936524:6,742,853...6,756,038

G

collagen type XV alpha 1 chain

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:7,481,541...7,591,452
Ensembl chrNW_004936524:7,481,761...7,590,544

G

coronin 2A

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,819,641...6,845,854
Ensembl chrNW_004936524:6,820,063...6,848,371

G

endoplasmic reticulum protein 44

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:8,387,234...8,470,776
Ensembl chrNW_004936524:8,383,891...8,470,855

G

forkhead box E1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,619,128...6,620,278
Ensembl chrNW_004936524:6,619,128...6,620,278

G

gamma-aminobutyric acid type B receptor subunit 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,944,923...7,297,833
Ensembl chrNW_004936524:6,943,147...7,297,835

G

polypeptide N-acetylgalactosaminyltransferase 12

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:7,379,381...7,410,136
Ensembl chrNW_004936524:7,379,305...7,410,376

G

hemogen

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,690,969...6,699,307

G

inversin

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620

G

N-acetylneuraminate synthase

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902

G

nuclear cap binding protein subunit 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,429,735...6,465,035
Ensembl chrNW_004936524:6,429,185...6,465,035

G

nuclear receptor subfamily 4 group A member 3

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:8,252,321...8,290,747
Ensembl chrNW_004936524:8,252,381...8,289,157

G

SEC61 translocon subunit beta

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:7,731,033...7,739,410
Ensembl chrNW_004936524:7,731,058...7,740,310

G

syntaxin 17

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:8,324,562...8,381,244
Ensembl chrNW_004936524:8,324,569...8,376,114

G

TBC1 domain family member 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,873,625...6,918,171
Ensembl chrNW_004936524:6,875,085...6,918,082

G

tudor domain containing 7

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,268,640...6,323,059
Ensembl chrNW_004936524:6,249,016...6,322,815

G

transforming growth factor beta receptor 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097

G

tropomodulin 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,347,089...6,403,996
Ensembl chrNW_004936524:6,326,400...6,403,057

G

tripartite motif containing 14

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,797,788...6,816,582
Ensembl chrNW_004936524:6,797,762...6,816,607

G

tRNA methyltransferase O

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,666,139...6,678,712
Ensembl chrNW_004936524:6,666,662...6,678,657

G

thiosulfate sulfurtransferase like domain containing 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,394,482...6,429,515
Ensembl chrNW_004936524:6,405,006...6,426,176

G

XPA, DNA damage recognition and repair factor

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004936524:6,467,365...6,493,556
Ensembl chrNW_004936524:6,465,104...6,493,610

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 chrNW_004936524:7,725,444...7,730,869
Ensembl chrNW_004936524:7,725,438...7,731,486

G

dynein axonemal assembly factor 2

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

NCBI chrNW_004936583:386,806...394,650
Ensembl chrNW_004936583:387,189...394,910

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 chrNW_004936583:396,787...399,697
Ensembl chrNW_004936583:398,190...399,533

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 chrNW_004936581:462,417...487,563
Ensembl chrNW_004936581:462,969...487,578

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 chrNW_004936556:174,602...220,088
Ensembl chrNW_004936556:174,602...220,285

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 chrNW_004936491:17,152,759...17,342,648

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 chrNW_004936556:738,946...742,049
Ensembl chrNW_004936556:739,094...742,034

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 chrNW_004936556:424,044...434,678
Ensembl chrNW_004936556:426,110...435,139

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 chrNW_004936556:693,383...700,899
Ensembl chrNW_004936556:693,198...700,888

G

chaperonin containing TCP1 subunit 7

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

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

NCBI chrNW_004936491:17,017,687...17,033,526
Ensembl chrNW_004936491:17,017,687...17,033,855

G

chromosome unknown 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 chrNW_004936556:641,090...646,268
Ensembl chrNW_004936556:640,884...647,053

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 chrNW_004936556:601,550...632,321
Ensembl chrNW_004936556:601,548...621,609

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 chrNW_004936556:226,643...263,517
Ensembl chrNW_004936556:226,627...264,905

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 chrNW_004936556:766,522...769,557
Ensembl chrNW_004936556:766,613...771,316

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 chrNW_004936556:731,169...738,870
Ensembl chrNW_004936556:730,716...738,562

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 chrNW_004936491:17,512,040...17,525,831
Ensembl chrNW_004936491:17,512,125...17,525,806

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 chrNW_004936491:17,068,797...17,071,608
Ensembl chrNW_004936491:17,069,325...17,071,226

G

empty spiracles homeobox 1

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

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

NCBI chrNW_004936491:16,745,310...16,762,422
Ensembl chrNW_004936491:16,745,310...16,762,422

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 chrNW_004936491:16,056,059...16,633,405
Ensembl chrNW_004936491:16,055,503...16,633,428

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 chrNW_004936491:17,035,988...17,048,165
Ensembl chrNW_004936491:17,034,169...17,061,752

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 chrNW_004936556:741,718...746,016
Ensembl chrNW_004936556:741,718...749,090

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 chrNW_004936556:678,073...681,157
Ensembl chrNW_004936556:677,944...681,147

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 chrNW_004936556:711,279...713,530
Ensembl chrNW_004936556:711,880...713,492

G

cytochrome P450 26B1

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

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

NCBI chrNW_004936491:16,010,394...16,028,852
Ensembl chrNW_004936491:16,010,070...16,028,895

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 chrNW_004936556:745,798...765,926
Ensembl chrNW_004936556:745,798...765,918

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 chrNW_004936556:437,925...456,841
Ensembl chrNW_004936556:437,352...457,144

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 chrNW_004936556:684,203...688,037
Ensembl chrNW_004936556:684,394...688,056

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 chrNW_004936556:691,511...693,366
Ensembl chrNW_004936556:691,511...692,563

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 chrNW_004936556:462,998...475,092
Ensembl chrNW_004936556:462,974...475,159

G

notochord homeobox

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

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

NCBI chrNW_004936491:16,987,797...16,996,423
Ensembl chrNW_004936491:16,987,642...16,996,579

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 chrNW_004936556:719,601...722,339
Ensembl chrNW_004936556:718,615...721,908

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 chrNW_004936491:17,011,999...17,016,773
Ensembl chrNW_004936491:17,009,723...17,016,784

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 chrNW_004936491:16,883,972...16,919,539
Ensembl chrNW_004936491:16,886,065...16,919,545

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 chrNW_004936556:650,303...665,324
Ensembl chrNW_004936556:650,303...665,324

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 chrNW_004936491:16,769,960...16,882,776
Ensembl chrNW_004936491:16,769,979...16,882,781

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 chrNW_004936556:475,856...577,160
Ensembl chrNW_004936556:475,394...577,168

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 chrNW_004936491:16,997,962...17,011,470
Ensembl chrNW_004936491:16,997,962...17,011,551

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 chrNW_004936491:16,693,940...16,699,040

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 chrNW_004936556:143,483...174,383

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 chrNW_004936556:292,551...391,644
Ensembl chrNW_004936556:292,586...385,741

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 chrNW_004936556:727,637...729,391
Ensembl chrNW_004936556:727,637...729,361

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 chrNW_004936491:17,493,630...17,500,779
Ensembl chrNW_004936491:17,493,285...17,500,523

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 chrNW_004936556:700,972...709,058
Ensembl chrNW_004936556:701,037...709,302

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 chrNW_004936556:681,405...684,071
Ensembl chrNW_004936556:681,590...688,056

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 chrNW_004936556:646,312...649,961
Ensembl chrNW_004936556:645,933...662,452

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 chrNW_004936857:101,261...154,199
Ensembl chrNW_004936857:101,270...154,199

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 chrNW_004936562:1,952,581...1,960,327
Ensembl chrNW_004936562:1,952,536...1,960,327

G

AGBL carboxypeptidase 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,563,607...1,598,451
Ensembl chrNW_004936562:1,564,607...1,593,273

G

autophagy and beclin 1 regulator 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,493,823...2,676,868
Ensembl chrNW_004936562:2,493,774...2,676,912

G

ADP ribosylation factor GTPase activating protein 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,996,000...2,005,850
Ensembl chrNW_004936562:1,996,000...2,006,554

G

Rho GTPase activating protein 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,400,983...2,420,635
Ensembl chrNW_004936562:2,400,422...2,420,766

G

autophagy related 13

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,424,398...2,473,103
Ensembl chrNW_004936562:2,423,001...2,473,232

G

C1q and TNF related 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,659,171...1,663,154
Ensembl chrNW_004936562:1,659,164...1,664,183

G

CUGBP Elav-like family member 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,699,774...1,785,285
Ensembl chrNW_004936562:1,753,088...1,785,310

G

cholinergic receptor muscarinic 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,685,209...2,687,751
Ensembl chrNW_004936562:2,493,774...2,689,731

G

cytoskeleton associated protein 5

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,269,341...2,369,098
Ensembl chrNW_004936562:2,269,332...2,371,224

G

cAMP responsive element binding protein 3 like 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,739,908...2,772,484
Ensembl chrNW_004936562:2,739,905...2,772,484

G

cryptochrome circadian regulator 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:3,133,849...3,168,472
Ensembl chrNW_004936562:3,133,633...3,168,480

G

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,005,835...2,199,527
Ensembl chrNW_004936562:2,005,626...2,199,691

G

damage specific DNA binding protein 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,960,406...1,974,809
Ensembl chrNW_004936562:1,960,406...1,974,867

G

diacylglycerol kinase zeta

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,690,907...2,733,455
Ensembl chrNW_004936562:2,690,858...2,733,620

G

coagulation factor II, thrombin

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650

G

family with sequence similarity 180 member B

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,664,341...1,666,465
Ensembl chrNW_004936562:1,664,168...1,666,101

G

formin binding protein 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,513,236...1,554,984
Ensembl chrNW_004936562:1,513,211...1,554,025

G

Frey regulator of sperm-oocyte fusion 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:3,109,979...3,113,144
Ensembl chrNW_004936562:3,112,483...3,113,142

G

harbinger transposase derived 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,473,389...2,481,724
Ensembl chrNW_004936562:2,473,335...2,481,793

G

kelch repeat and BTB domain containing 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,674,662...1,679,313
Ensembl chrNW_004936562:1,674,678...1,680,699

G

LARGE xylosyl- and glucuronyltransferase 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:3,093,719...3,099,311
Ensembl chrNW_004936562:3,093,857...3,099,311

G

LDL receptor related protein 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937

G

MAP kinase activating death domain

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,891,120...1,936,559
Ensembl chrNW_004936562:1,892,033...1,932,418

G

mitogen-activated protein kinase 8 interacting protein 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:3,113,217...3,122,794
Ensembl chrNW_004936562:3,109,547...3,122,939

G

midkine

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,687,825...2,690,292
Ensembl chrNW_004936562:2,687,825...2,689,484

G

mitochondrial carrier 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,622,341...1,644,191

G

myosin binding protein C3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648

G

NADH:ubiquinone oxidoreductase core subunit S3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,667,780...1,674,670
Ensembl chrNW_004936562:1,664,293...1,674,670

G

nuclear receptor subfamily 1 group H member 3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,937,665...1,946,680
Ensembl chrNW_004936562:1,937,667...1,946,669

G

nucleoporin 160

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,435,938...1,491,439
Ensembl chrNW_004936562:1,435,973...1,490,890

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 chrNW_004936562:1,988,839...1,995,597
Ensembl chrNW_004936562:1,989,662...1,995,580

G

peroxisomal biogenesis factor 16

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887

G

PHD finger protein 21A

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,920,254...3,093,444
Ensembl chrNW_004936562:2,920,316...3,093,556

G

proteasome 26S subunit, ATPase 3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,810,883...1,817,040
Ensembl chrNW_004936562:1,810,864...1,823,077

G

protein tyrosine phosphatase mitochondrial 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,680,131...1,689,125
Ensembl chrNW_004936562:1,680,164...1,690,062

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181

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 chrNW_004936562:3,190,955...3,198,858
Ensembl chrNW_004936562:3,190,962...3,198,884

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,811,479...1,825,857
Ensembl chrNW_004936562:1,816,049...1,825,892

G

Spi-1 proto-oncogene

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:1,852,759...1,870,647
Ensembl chrNW_004936562:1,852,740...1,870,472

G

zinc finger protein 408

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004936562:2,394,368...2,400,924
Ensembl chrNW_004936562:2,393,751...2,400,650

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 chrNW_004936524:1,659,791...1,713,971
Ensembl chrNW_004936524:1,659,608...1,714,102

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 chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422

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 chrNW_004936501:8,069,335...8,133,568
Ensembl chrNW_004936501:8,069,319...8,133,024

G

glutamyl-tRNA synthetase 2, mitochondrial

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

NCBI chrNW_004936501:8,190,466...8,209,320
Ensembl chrNW_004936501:8,188,071...8,209,386

G

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

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

NCBI chrNW_004936501:8,142,932...8,174,619
Ensembl chrNW_004936501:8,141,000...8,174,672

G

NADH:ubiquinone oxidoreductase subunit AB1

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

NCBI chrNW_004936501:8,232,920...8,240,675
Ensembl chrNW_004936501:8,232,140...8,240,739

G

partner and localizer of BRCA2

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

NCBI chrNW_004936501:8,246,927...8,273,258

G

sodium channel epithelial 1 subunit beta

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

NCBI chrNW_004936501:8,021,090...8,065,245
Ensembl chrNW_004936501:8,020,316...8,065,332

G

sodium channel epithelial 1 subunit gamma

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

NCBI chrNW_004936501:7,932,729...7,958,146
Ensembl chrNW_004936501:7,932,703...7,958,204

G

ubiquitin family domain containing 1

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

NCBI chrNW_004936501:8,209,753...8,221,512
Ensembl chrNW_004936501:8,209,746...8,225,565

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 chrNW_004936510:4,281,847...4,343,271
Ensembl chrNW_004936510:4,281,626...4,343,276

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 chrNW_004936510:4,344,765...4,376,009
Ensembl chrNW_004936510:4,341,758...4,376,109

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 chrNW_004936655:1,020,363...1,032,847
Ensembl chrNW_004936655:1,017,169...1,032,816

G

VCP nuclear cofactor family member 1

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936655:1,002,956...1,021,491

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 chrNW_004936475:19,449,007...19,456,188
Ensembl chrNW_004936475:19,449,172...19,456,168
Ensembl chrNW_004936475:19,449,172...19,456,168

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 chrNW_004936479:16,554,816...16,855,211
Ensembl chrNW_004936479:16,554,569...16,858,500

G

G protein-coupled receptor 22

ClinVar Annotator: match by term: COG5-CDG

PMID:23228021 PMID:28492532

NCBI chrNW_004936479:16,620,222...16,625,938
Ensembl chrNW_004936479:16,618,680...16,624,489

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: COG5-CDG

NCBI chrNW_004936479:16,855,368...16,886,210
Ensembl chrNW_004936479:16,854,852...16,886,477

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 chrNW_004936475:23,086,406...23,116,203
Ensembl chrNW_004936475:23,086,372...23,119,163

G

fucose kinase

ClinVar Annotator: match by term: COG4-CDG

NCBI chrNW_004936475:23,116,638...23,136,635
Ensembl chrNW_004936475:23,116,646...23,136,604

G

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

ClinVar Annotator: match by term: COG4-CDG

NCBI chrNW_004936475:23,149,452...23,203,919
Ensembl chrNW_004936475:23,149,487...23,205,027

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 chrNW_004936482:18,558,789...18,591,709
Ensembl chrNW_004936482:18,558,943...18,590,297

G

ADP ribosylation factor like GTPase 9

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chrNW_004936482:18,722,725...18,738,478
Ensembl chrNW_004936482:18,726,574...18,739,081

G

centrosomal protein 135

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:18,230,083...18,299,219
Ensembl chrNW_004936482:18,230,438...18,298,259

G

clock circadian regulator

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:17,789,834...17,900,371
Ensembl chrNW_004936482:17,794,134...17,845,303

G

capping protein inhibiting regulator of actin dynamics

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:18,309,078...18,557,335

G

exocyst complex component 1

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:18,148,672...18,199,481
Ensembl chrNW_004936482:18,148,674...18,199,490

G

HOP homeobox

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chrNW_004936482:18,841,220...18,872,136
Ensembl chrNW_004936482:18,840,434...18,850,005

G

kinase insert domain receptor

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274

G

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:18,649,093...18,664,629
Ensembl chrNW_004936482:18,626,015...18,667,164

G

neuromedin U

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

Ensembl chrNW_004936482:17,936,467...17,961,711

G

phosducin like 2

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:17,907,713...17,927,007
Ensembl chrNW_004936482:17,907,713...17,932,224

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587

G

phosphoribosyl pyrophosphate amidotransferase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:18,606,124...18,648,989
Ensembl chrNW_004936482:18,606,124...18,648,681

G

RE1 silencing transcription factor

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chrNW_004936482:19,018,454...19,040,438

G

serine peptidase inhibitor Kazal type 2

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chrNW_004936482:18,965,186...18,970,189

G

sperm microtubule associated protein 2 like

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chrNW_004936482:18,746,254...18,802,958
Ensembl chrNW_004936482:18,746,254...18,802,934

G

steroid 5 alpha-reductase 3

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:17,727,418...17,744,780
Ensembl chrNW_004936482:17,727,310...17,745,225

G

signal recognition particle 72

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004936482:18,687,088...18,721,734
Ensembl chrNW_004936482:18,687,046...18,721,757

G

transmembrane protein 165

ClinVar Annotator: match by term: TMEM165-CDG

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

NCBI chrNW_004936482:17,760,532...17,785,466
Ensembl chrNW_004936482:17,760,384...17,785,587

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 chrNW_004936565:5,996,031...6,069,517
Ensembl chrNW_004936565:5,996,270...6,069,426

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 chrNW_004936721:1,692,623...1,700,256
Ensembl chrNW_004936721:1,692,623...1,702,348

G

A-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,323,365...13,335,003
Ensembl chrNW_004936502:13,323,355...13,335,224

G

bone morphogenetic protein 15

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936873:109,156...115,498

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 chrNW_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113

G

coiled-coil domain containing 120

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:954,188...971,507
Ensembl chrNW_004936721:964,603...969,992

G

coiled-coil domain containing 22

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:1,107,697...1,118,313
Ensembl chrNW_004936721:1,107,866...1,118,050

G

cyclin B3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936721:1,729,979...1,782,399

G

cyclin dependent kinase 16

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:12,987,736...13,000,186
Ensembl chrNW_004936502:12,987,731...13,000,186

G

complement factor properdin

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,391,613...13,398,723
Ensembl chrNW_004936502:13,391,535...13,397,440

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814

G

diacylglycerol kinase kappa

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936721:1,804,746...1,934,854
Ensembl chrNW_004936721:1,804,746...1,934,527

G

EBP cholestenol delta-isomerase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918

G

ETS transcription factor ELK1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,402,726...13,418,214
Ensembl chrNW_004936502:13,402,728...13,418,214

G

ES cell expressed Ras

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:782,343...783,591
Ensembl chrNW_004936721:782,525...783,208

G

forkhead box P3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308

G

FtsJ RNA 2'-O-methyltransferase 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936721:453,789...466,425
Ensembl chrNW_004936721:453,790...466,360

G

GATA binding protein 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768

G

glyoxalase domain containing 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:719,660...731,800
Ensembl chrNW_004936721:719,651...732,078

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 chrNW_004936721:1,013,776...1,031,018
Ensembl chrNW_004936721:1,011,492...1,031,440

G

GRIP1 associated protein 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:892,704...916,965
Ensembl chrNW_004936721:891,824...916,984

G

histone deacetylase 6

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053

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 chrNW_004936721:881,162...890,939
Ensembl chrNW_004936721:880,774...889,874

G

zinc finger protein 182

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936721:288,584...342,402
Ensembl chrNW_004936721:289,508...323,119

G

uncharacterized LOC110599509

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:1,347,679...1,350,598

G

MAGI family member, X-linked

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:1,039,098...1,044,286
Ensembl chrNW_004936721:1,039,481...1,044,030

G

NADH:ubiquinone oxidoreductase subunit B11

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:12,921,371...12,923,702
Ensembl chrNW_004936502:12,921,370...12,923,683

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:847,360...876,912
Ensembl chrNW_004936721:848,324...877,068

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 chrNW_004936721:783,973...787,712
Ensembl chrNW_004936721:782,032...787,952

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 chrNW_004936721:839,876...844,488
Ensembl chrNW_004936721:839,874...844,488

G

proteolipid protein 2

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:1,047,261...1,050,647
Ensembl chrNW_004936721:1,042,171...1,050,661

G

porcupine O-acyltransferase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936721:495,132...508,341
Ensembl chrNW_004936721:495,093...508,347

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 chrNW_004936721:1,137,998...1,153,243
Ensembl chrNW_004936721:1,137,916...1,156,151

G

polyglutamine binding protein 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:825,171...830,010
Ensembl chrNW_004936721:825,075...832,755

G

PRA1 domain family member 2

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:972,095...974,738
Ensembl chrNW_004936721:971,744...975,580

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 chrNW_004936721:1,050,755...1,060,603
Ensembl chrNW_004936721:1,050,801...1,060,574

G

RNA binding motif protein 10

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:12,923,890...12,952,179
Ensembl chrNW_004936502:12,925,910...12,955,470

G

RNA binding motif protein 3

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:547,751...551,273
Ensembl chrNW_004936721:547,777...551,270

G

shroom family member 4

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936721:2,068,731...2,166,537

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 chrNW_004936721:830,067...838,783
Ensembl chrNW_004936721:830,042...838,866

G

solute carrier family 38 member 5

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936721:419,286...441,224
Ensembl chrNW_004936721:419,268...441,350

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:646,778...661,144
Ensembl chrNW_004936721:646,772...661,091

G

synapsin I

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,334,998...13,387,082
Ensembl chrNW_004936502:13,334,995...13,387,172

G

synaptophysin

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:1,062,206...1,075,935
Ensembl chrNW_004936721:1,062,217...1,075,988

G

TBC1 domain family member 25

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:524,398...536,918
Ensembl chrNW_004936721:524,247...537,363

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 chrNW_004936721:933,572...945,717
Ensembl chrNW_004936721:933,404...945,725

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 chrNW_004936721:817,738...824,074
Ensembl chrNW_004936721:818,608...826,042

G

TIMP metallopeptidase inhibitor 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248

G

ubiquitin like modifier activating enzyme 1

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:12,961,236...12,984,235
Ensembl chrNW_004936502:12,969,145...12,984,238

G

ubiquitin specific peptidase 11

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,003,214...13,020,772
Ensembl chrNW_004936502:13,003,261...13,020,388

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 chrNW_004936721:1,396,103...1,399,718
Ensembl chrNW_004936721:1,396,103...1,399,745

G

ubiquitously expressed prefoldin like chaperone

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,419,520...13,427,777
Ensembl chrNW_004936502:13,418,403...13,427,767

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:634,685...641,248
Ensembl chrNW_004936721:634,706...641,082

G

WD repeat domain 13

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:566,529...594,203
Ensembl chrNW_004936721:566,520...574,934

G

WD repeat domain 45

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG

NCBI chrNW_004936721:975,113...981,149
Ensembl chrNW_004936721:975,104...981,731

G

zinc finger protein 157

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,127,503...13,158,443
Ensembl chrNW_004936502:13,127,563...13,158,962

G

zinc finger protein 41

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,176,781...13,226,872
Ensembl chrNW_004936502:13,178,189...13,227,257

G

zinc finger protein 81

ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22

NCBI chrNW_004936502:13,468,969...13,526,510
Ensembl chrNW_004936502:13,497,078...13,526,328

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 chrNW_004936520:961,376...1,036,801
Ensembl chrNW_004936520:962,756...1,037,274

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 chrNW_004936469:41,083,713...41,087,106
Ensembl chrNW_004936469:41,083,738...41,087,087

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 chrNW_004936538:4,512,866...4,517,404
Ensembl chrNW_004936538:4,511,941...4,517,498

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 chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

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 chrNW_004936484:19,551,293...19,562,132
Ensembl chrNW_004936484:19,551,293...19,562,138

G

calpain 9

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004936484:19,671,799...19,699,161
Ensembl chrNW_004936484:19,671,964...19,699,161

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...

NCBI chrNW_004936484:19,723,475...19,756,136
Ensembl chrNW_004936484:19,722,374...19,756,504

G

chromosome unknown C1orf131 homolog

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004936484:19,440,923...19,451,922
Ensembl chrNW_004936484:19,445,013...19,451,464

G

chromosome unknown C1orf198 homolog

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004936484:19,631,530...19,657,388
Ensembl chrNW_004936484:19,631,524...19,657,560

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

G

polypeptide N-acetylgalactosaminyltransferase 2

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004936484:19,894,682...19,990,214
Ensembl chrNW_004936484:19,893,513...19,990,215

G

glyceronephosphate O-acyltransferase

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004936484:19,414,094...19,434,929
Ensembl chrNW_004936484:19,410,956...19,434,929

G

piggyBac transposable element derived 5

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004936484:19,866,855...19,886,330
Ensembl chrNW_004936484:19,866,802...19,886,354

G

tripartite motif containing 67

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004936484:19,456,756...19,495,047
Ensembl chrNW_004936484:19,456,759...19,492,103

G

tetratricopeptide repeat domain 13

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004936484:19,574,455...19,620,505
Ensembl chrNW_004936484:19,577,065...19,619,800

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 chrNW_004936502:7,206,226...7,232,798
Ensembl chrNW_004936502:7,206,172...7,233,912

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 chrNW_004936484:19,894,682...19,990,214
Ensembl chrNW_004936484:19,893,513...19,990,215

Congenital Disorder of Glycosylation Type IIv

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ER degradation enhancing alpha-mannosidase like protein 3

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

PMID:25741868 PMID:34143952

NCBI chrNW_004936481:5,352,964...5,424,944
Ensembl chrNW_004936481:5,352,956...5,424,944

Congenital Disorder of Glycosylation Type IIw

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 37 member 4

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

PMID:3728255 PMID:9428641 PMID:9536098 PMID:9675154 PMID:9758626 More...

NCBI chrNW_004936542:3,980,538...3,987,039
Ensembl chrNW_004936542:3,980,236...3,987,066

Congenital Disorder of Glycosylation Type IIy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

guided entry of tail-anchored proteins factor 4

ClinVar Annotator: match by term: CDG IIy

PMID:25741868 PMID:32395830

NCBI chrNW_004936754:1,113,835...1,128,881
Ensembl chrNW_004936754:1,113,790...1,128,875

Congenital Disorder of Glycosylation Type IIz

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium modulating ligand

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

NCBI chrNW_004936597:1,979,029...1,988,281
Ensembl chrNW_004936597:1,978,974...1,989,851

Congenital Disorder of Glycosylation with Defective Fucosylation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fucose kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation

NCBI chrNW_004936475:23,116,638...23,136,635
Ensembl chrNW_004936475:23,116,646...23,136,604

Congenital Disorder of Glycosylation with Defective Fucosylation 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fucosyltransferase 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1

PMID:24033266 PMID:25741868 PMID:28492532 PMID:29304374

NCBI chrNW_004936495:9,012,425...9,341,538
Ensembl chrNW_004936495:9,115,938...9,344,068

Congenital Disorder of Glycosylation with Defective Fucosylation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fucose kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 | ClinVar Annotator: match by term: FCSK-related condition

PMID:16199547 PMID:25741868 PMID:28492532 PMID:30503518

NCBI chrNW_004936475:23,116,638...23,136,635
Ensembl chrNW_004936475:23,116,646...23,136,604

developmental and epileptic encephalopathy 36

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG13 UDP-N-acetylglucosaminyltransferase subunit

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More...

NCBI chrNW_004936499:3,558,273...3,629,570
Ensembl chrNW_004936499:3,558,236...3,629,592

G

calpain 6

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chrNW_004936499:4,041,837...4,060,895
Ensembl chrNW_004936499:4,035,664...4,060,895

G

chordin like 1

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chrNW_004936499:4,474,899...4,587,563
Ensembl chrNW_004936499:4,474,884...4,587,501

G

doublecortin

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508

G

p21 (RAC1) activated kinase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chrNW_004936499:4,079,127...4,328,580
Ensembl chrNW_004936499:4,079,103...4,188,774

developmental and epileptic encephalopathy 50

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25678555 PMID:25741868 More...

NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918

Gillessen-Kaesbach-Nishimura Dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome

PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More...

NCBI chrNW_004936612:2,554,158...2,661,896
Ensembl chrNW_004936612:2,554,226...2,650,037

immunodeficiency 47

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Immunodeficiency 47

PMID:25741868 PMID:27231034 PMID:28492532 PMID:28688840 PMID:29192153 More...

NCBI chrNW_004936809:1,179,507...1,188,172
Ensembl chrNW_004936809:1,179,464...1,188,283

NGLY1-deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-glycanase 1

ClinVar Annotator: match by term: Congenital disorder of deglycosylation | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 1 | ClinVar Annotator: match by term: NGLY1-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22581936 More...

NCBI chrNW_004936473:17,243,763...17,294,609
Ensembl chrNW_004936473:17,239,966...17,294,791

G

retinoic acid receptor beta

ClinVar Annotator: match by term: Congenital disorder of deglycosylation

PMID:24651605 PMID:28492532

NCBI chrNW_004936473:16,983,829...17,146,517
Ensembl chrNW_004936473:16,983,600...17,148,885

G

DNA topoisomerase II beta

ClinVar Annotator: match by term: Congenital disorder of deglycosylation

PMID:24651605 PMID:28492532

NCBI chrNW_004936473:17,146,576...17,189,589
Ensembl chrNW_004936473:17,143,894...17,189,605

Term paths to the root

Path 1
Term	Annotations
disease	16465
physical disorder	4664
congenital disorder of glycosylation	520
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	49
congenital disorder of glycosylation type I +	257
congenital disorder of glycosylation type II +	230
developmental and epileptic encephalopathy 50	1
Path 2
Term	Annotations
disease	16465
Developmental Disease	16381
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	16324
genetic disease	16311
inherited metabolic disorder	5214
carbohydrate metabolic disorder	2562
congenital disorder of glycosylation	520
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	49
congenital disorder of glycosylation type I +	257
congenital disorder of glycosylation type II +	230
developmental and epileptic encephalopathy 50	1

paths to the root