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_004955442:12,476,055...12,487,613

G

ALG11 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chrNW_004955431:5,297,477...5,320,653
Ensembl chrNW_004955431:5,297,715...5,306,590

G

ALG12 alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955413:33,030,994...33,039,622
Ensembl chrNW_004955413:33,029,116...33,039,700

G

ALG13 UDP-N-acetylglucosaminyltransferase subunit

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:32681751 PMID:33734437

NCBI chrNW_004955490:4,069,866...4,140,494
Ensembl chrNW_004955490:4,069,494...4,140,532

G

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

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955419:26,423,243...26,427,384
Ensembl chrNW_004955419:26,423,243...26,432,024

G

ALG3 alpha-1,3- mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955420:23,236,686...23,241,936
Ensembl chrNW_004955420:23,236,686...23,241,936

G

ALG6 alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955423:26,569,824...26,592,857

G

ALG8 alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chrNW_004955414:13,832,808...13,863,076
Ensembl chrNW_004955414:13,832,788...13,863,184

G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616

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_004955472:2,490,649...2,536,053
Ensembl chrNW_004955472:2,490,661...2,536,317

G

C1GALT1 specific chaperone 1

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

PMID:25741868 PMID:37216524

NCBI chrNW_004955572:1,254,289...1,258,561
Ensembl chrNW_004955572:1,254,289...1,258,561

G

component of oligomeric golgi complex 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:25741868 PMID:28492532

NCBI chrNW_004955478:19,558...38,905
Ensembl chrNW_004955478:19,386...39,433

G

component of oligomeric golgi complex 5

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955410:11,651,587...11,920,866
Ensembl chrNW_004955410:11,653,058...11,920,718

G

component of oligomeric golgi complex 6

ClinVar Annotator: match by term: Congenital disorder of glycosylation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chrNW_004955431:6,641,116...6,703,797
Ensembl chrNW_004955431:6,637,327...6,703,828

G

component of oligomeric golgi complex 7

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955493:1,967,157...2,031,220
Ensembl chrNW_004955493:1,967,313...2,031,062

G

component of oligomeric golgi complex 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955484:7,357,066...7,363,239
Ensembl chrNW_004955484:7,357,066...7,363,302

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_004955452:1,186,733...1,195,691
Ensembl chrNW_004955452:1,186,733...1,240,087

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_004955409:13,019,941...13,028,378
Ensembl chrNW_004955409:13,020,313...13,027,849

G

dolichol kinase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955570:1,310,894...1,312,952
Ensembl chrNW_004955570:1,311,056...1,312,672

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_004955412:20,205,381...20,217,874
Ensembl chrNW_004955412:20,205,381...20,217,871

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_004955445:7,472,579...7,492,632
Ensembl chrNW_004955445:7,472,562...7,495,774

G

dihydrouridine synthase 4 like

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955410:11,919,710...11,931,593
Ensembl chrNW_004955410:11,919,625...11,932,393

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_004955442:12,467,077...12,475,902

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955410:11,626,743...11,652,343
Ensembl chrNW_004955410:11,626,743...11,652,343

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_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635

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_004955557:1,294,408...1,336,164
Ensembl chrNW_004955557:1,290,615...1,336,198

G

mannosidase alpha class 2B member 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955514:3,743,265...3,771,970
Ensembl chrNW_004955514:3,743,417...3,771,970

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_004955409:13,029,578...13,032,406
Ensembl chrNW_004955409:13,030,569...13,031,912

G

mannose-P-dolichol utilization defect 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955467:9,335,488...9,339,888
Ensembl chrNW_004955467:9,335,488...9,339,874

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955450:3,061,079...3,071,202
Ensembl chrNW_004955450:3,061,079...3,067,585

G

maestro heat like repeat family member 8

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955422:24,549,990...24,612,899
Ensembl chrNW_004955422:24,550,217...24,613,050

G

nucleoporin 188

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955570:1,312,998...1,369,513
Ensembl chrNW_004955570:1,312,998...1,369,513

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_004955436:825,387...850,558
Ensembl chrNW_004955436:825,387...850,558

G

peptide deformylase, mitochondrial

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955484:7,363,861...7,366,159
Ensembl chrNW_004955484:7,363,861...7,366,159

G

phosphoglucomutase 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:25741868 PMID:28492532

NCBI chrNW_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527

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_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125

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_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719

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_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895

G

RFT1 homolog

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955430:3,055,766...3,096,501
Ensembl chrNW_004955430:3,052,368...3,096,726

G

ribophorin II

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955422:24,497,288...24,550,439
Ensembl chrNW_004955422:24,497,228...24,550,439

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_004955411:14,443,957...14,469,590
Ensembl chrNW_004955411:14,443,839...14,468,246

G

solute carrier family 35 member A2

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508

G

solute carrier family 35 member C1

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955422:2,130,561...2,139,145
Ensembl chrNW_004955422:2,130,453...2,139,145

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_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542

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_004955447:15,578,661...15,588,218

G

signal sequence receptor subunit 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation

NCBI chrNW_004955448:7,554,303...7,569,022
Ensembl chrNW_004955448:7,554,303...7,569,602

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_004955447:15,538,958...15,543,885
Ensembl chrNW_004955447:15,538,958...15,543,892

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_004955463:1,633,776...1,848,187
Ensembl chrNW_004955463:1,634,238...1,848,187

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_004955453:15,104,229...15,109,487
Ensembl chrNW_004955453:15,104,229...15,112,468

G

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

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

NCBI chrNW_004955453:14,215,104...14,222,338
Ensembl chrNW_004955453:14,215,408...14,222,172

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chrNW_004955453:14,196,728...14,204,344
Ensembl chrNW_004955453:14,196,927...14,203,826

G

actin related protein 2/3 complex subunit 2

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

NCBI chrNW_004955453:15,117,978...15,145,895
Ensembl chrNW_004955453:15,116,093...15,146,041

G

acid sensing ion channel subunit family member 4

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

NCBI chrNW_004955453:13,937,745...13,961,664
Ensembl chrNW_004955453:13,935,826...13,961,664

G

autophagy related 9A

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

NCBI chrNW_004955453:14,203,798...14,214,760
Ensembl chrNW_004955453:14,206,065...14,213,729

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chrNW_004955453:15,008,225...15,015,030
Ensembl chrNW_004955453:15,008,368...15,015,520

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chrNW_004955453:14,471,625...14,474,082
Ensembl chrNW_004955453:14,472,757...14,473,896

G

cilia and flagella associated protein 65

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

NCBI chrNW_004955453:14,394,853...14,431,774
Ensembl chrNW_004955453:14,397,700...14,433,204

G

chondroitin polymerizing factor

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

NCBI chrNW_004955453:13,932,822...13,937,587
Ensembl chrNW_004955453:13,932,822...13,939,350

G

CCR4-NOT transcription complex subunit 9

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

NCBI chrNW_004955453:14,819,007...14,845,879
Ensembl chrNW_004955453:14,816,910...14,845,912

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chrNW_004955453:14,263,619...14,270,701
Ensembl chrNW_004955453:14,264,707...14,270,732

G

crystallin beta A2

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

NCBI chrNW_004955453:14,438,658...14,444,469
Ensembl chrNW_004955453:14,441,007...14,444,497

G

CTD small phosphatase 1

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

NCBI chrNW_004955453:14,971,276...14,976,667
Ensembl chrNW_004955453:14,968,484...14,976,667

G

C-X-C motif chemokine receptor 1

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

NCBI chrNW_004955453:15,181,027...15,196,224
Ensembl chrNW_004955453:15,194,205...15,195,272

G

desmin

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

NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chrNW_004955453:14,147,286...14,154,396
Ensembl chrNW_004955453:14,148,070...14,154,670

G

aspartyl aminopeptidase

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

NCBI chrNW_004955453:14,072,924...14,082,222
Ensembl chrNW_004955453:14,072,924...14,082,222

G

FEV transcription factor, ETS family member

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

NCBI chrNW_004955453:14,449,352...14,453,145
Ensembl chrNW_004955453:14,449,352...14,452,663

G

galactosidase beta 1 like

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

NCBI chrNW_004955453:14,185,582...14,196,779
Ensembl chrNW_004955453:14,185,692...14,196,779

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_004955453:13,967,118...13,974,351
Ensembl chrNW_004955453:13,965,174...13,974,789

G

G protein-coupled bile acid receptor 1

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

NCBI chrNW_004955453:15,109,711...15,112,438
Ensembl chrNW_004955453:15,109,711...15,112,438

G

Indian hedgehog signaling molecule

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

NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747

G

sterol 26-hydroxylase, mitochondrial

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

NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366

G

mitochondrial chaperone BCS1

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

NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383

G

non-homologous end joining factor 1

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

NCBI chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876

G

obscurin like cytoskeletal adaptor 1

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

NCBI chrNW_004955453:13,905,992...13,932,652
Ensembl chrNW_004955453:13,906,013...13,925,681

G

phospholipase C delta 4

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

NCBI chrNW_004955453:14,775,119...14,812,872
Ensembl chrNW_004955453:14,787,677...14,806,485

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chrNW_004955453:15,030,436...15,104,084
Ensembl chrNW_004955453:15,030,436...15,104,084

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chrNW_004955453:14,584,405...14,594,112
Ensembl chrNW_004955453:14,584,412...14,595,369

G

protein tyrosine phosphatase receptor type N

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

NCBI chrNW_004955453:14,126,416...14,145,347
Ensembl chrNW_004955453:14,126,416...14,145,347

G

regulated endocrine specific protein 18

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

NCBI chrNW_004955453:14,106,430...14,111,920

G

reticulophagy regulator family member 2

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

NCBI chrNW_004955453:14,258,523...14,263,573
Ensembl chrNW_004955453:14,258,523...14,263,573

G

ring finger protein 25

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

NCBI chrNW_004955453:14,753,575...14,761,617
Ensembl chrNW_004955453:14,753,575...14,761,617

G

solute carrier family 11 member 1

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

NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608

G

solute carrier family 23 member 3

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

NCBI chrNW_004955453:14,271,343...14,278,233
Ensembl chrNW_004955453:14,271,343...14,278,233

G

striated muscle enriched protein kinase

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

NCBI chrNW_004955453:13,979,080...14,033,718
Ensembl chrNW_004955453:13,976,674...14,033,252

G

serine/threonine kinase 16

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

NCBI chrNW_004955453:14,182,167...14,185,569
Ensembl chrNW_004955453:14,182,066...14,185,584

G

serine/threonine kinase 36

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

NCBI chrNW_004955453:14,727,779...14,753,534
Ensembl chrNW_004955453:14,728,583...14,753,534

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chrNW_004955453:15,083,179...15,100,197
Ensembl chrNW_004955453:15,092,522...15,099,021

G

transmembrane protein 198

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

NCBI chrNW_004955453:13,925,939...13,932,557
Ensembl chrNW_004955453:13,924,608...13,932,557

G

tubulin tyrosine ligase like 4

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

NCBI chrNW_004955453:14,679,945...14,720,025

G

tubulin alpha 4a

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

NCBI chrNW_004955453:14,177,043...14,180,814
Ensembl chrNW_004955453:14,175,866...14,182,023

G

ubiquitin specific peptidase 37

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

NCBI chrNW_004955453:14,846,044...14,931,336
Ensembl chrNW_004955453:14,846,044...14,931,336

G

villin 1

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

NCBI chrNW_004955453:14,935,450...14,961,011
Ensembl chrNW_004955453:14,935,456...14,961,011

G

Wnt family member 10A

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

NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818

G

Wnt family member 6

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

NCBI chrNW_004955453:14,547,427...14,560,001
Ensembl chrNW_004955453:14,545,700...14,560,976

G

zinc finger AN1-type containing 2B

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

NCBI chrNW_004955453:14,222,423...14,225,681
Ensembl chrNW_004955453:14,221,002...14,225,681

G

zinc finger protein 142

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

NCBI chrNW_004955453:14,766,665...14,786,403

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_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103

G

insulin like growth factor 1

NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152

G

insulin like growth factor 2

NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566

G

insulin like growth factor binding protein acid labile subunit

NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115

G

insulin like growth factor binding protein 3

NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845

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_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719

G

transmembrane protein 186

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

NCBI chrNW_004955442:9,411,849...9,414,017
Ensembl chrNW_004955442:9,411,908...9,417,324

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_004955436:1,635,397...1,640,989
Ensembl chrNW_004955436:1,635,399...1,645,075

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_004955526:126,100...137,551
Ensembl chrNW_004955526:132,040...136,106

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_004955526:203,971...213,328
Ensembl chrNW_004955526:203,971...213,328

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_004955526:319,920...321,985

G

centrosomal protein 85 like

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004955436:1,352,481...1,482,061
Ensembl chrNW_004955436:1,393,493...1,465,373

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_004955526:641,577...679,295

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_004955436:688,546...726,952
Ensembl chrNW_004955436:668,509...750,236

G

dermatan sulfate epimerase

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004955526:348,673...393,328
Ensembl chrNW_004955526:348,519...392,507

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_004955436:106,648...110,279

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_004955436:743,616...777,878
Ensembl chrNW_004955436:742,305...777,566

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_004955436:137,809...159,481
Ensembl chrNW_004955436:137,809...159,481

G

karyopherin subunit alpha 5

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004955436:48,880...102,447
Ensembl chrNW_004955436:48,303...102,447

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_004955436:1,642,337...1,661,362

G

5'-nucleotidase domain containing 1

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004955526:568,307...604,941

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_004955436:825,387...850,558
Ensembl chrNW_004955436:825,387...850,558

G

phospholamban

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004955436:1,439,098...1,447,070
Ensembl chrNW_004955436:1,439,098...1,447,070

G

regulatory factor X6

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004955436:213,810...278,699
Ensembl chrNW_004955436:213,809...280,577

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_004955436:528,038...636,194
Ensembl chrNW_004955436:524,854...636,338

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_004955436:30,638...43,581
Ensembl chrNW_004955436:27,902...43,704

G

RWD domain containing 1

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004955526:94,518...120,421

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_004955436:1,096,156...1,312,183
Ensembl chrNW_004955436:1,182,392...1,312,183

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_004955526:120,620...217,855
Ensembl chrNW_004955526:132,316...218,981

G

TSPY like 1

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004955526:539,178...552,120

G

TSPY like 4

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

PMID:28492532 PMID:29100083 PMID:31273557

NCBI chrNW_004955526:562,891...567,892

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_004955436:510,478...514,511

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_004955436:1,001...28,469
Ensembl chrNW_004955436:2,057...33,251

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_004955450:3,054,761...3,060,064
Ensembl chrNW_004955450:3,053,855...3,060,064

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_004955450:3,061,079...3,071,202
Ensembl chrNW_004955450:3,061,079...3,067,585

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_004955423:26,569,824...26,592,857

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_004955557:1,294,408...1,336,164
Ensembl chrNW_004955557:1,290,615...1,336,198

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_004955420:23,447,920...23,522,732
Ensembl chrNW_004955420:23,447,920...23,522,732

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_004955420:23,271,925...23,280,988
Ensembl chrNW_004955420:23,268,615...23,281,041

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_004955420:23,236,686...23,241,936
Ensembl chrNW_004955420:23,236,686...23,241,936

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_004955420:23,281,720...23,290,430
Ensembl chrNW_004955420:23,281,720...23,290,430

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_004955420:24,029,867...24,061,801
Ensembl chrNW_004955420:24,046,485...24,047,624

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_004955420:23,226,270...23,227,403
Ensembl chrNW_004955420:23,226,264...23,227,409

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_004955420:23,138,558...23,152,462
Ensembl chrNW_004955420:23,138,605...23,152,311

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_004955420:23,291,650...23,301,695
Ensembl chrNW_004955420:23,293,222...23,301,694

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_004955420:23,199,627...23,217,078
Ensembl chrNW_004955420:23,202,668...23,235,977

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_004955420:23,313,405...23,322,748
Ensembl chrNW_004955420:23,309,378...23,322,698

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_004955420:23,161,541...23,179,788
Ensembl chrNW_004955420:23,161,078...23,180,568

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_004955420:23,152,571...23,160,374
Ensembl chrNW_004955420:23,152,571...23,160,374

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_004955420:23,700,030...23,733,021
Ensembl chrNW_004955420:23,700,035...23,735,301

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_004955420:23,813,482...23,877,886

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_004955420:24,155,793...24,185,366

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_004955420:11,781,662...11,828,060
Ensembl chrNW_004955420:11,781,104...11,820,338

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_004955420:23,908,113...24,131,684
Ensembl chrNW_004955420:23,916,150...24,132,307

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_004955420:23,549,125...23,581,782
Ensembl chrNW_004955420:23,548,672...23,582,137

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_004955420:23,132,053...23,136,954
Ensembl chrNW_004955420:23,131,297...23,136,800

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_004955420:23,184,914...23,194,809
Ensembl chrNW_004955420:23,184,751...23,194,809

G

thrombopoietin

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

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

NCBI chrNW_004955420:23,120,828...23,128,894
Ensembl chrNW_004955420:23,123,637...23,129,198

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_004955420:23,243,197...23,253,202
Ensembl chrNW_004955420:23,242,396...23,251,352

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_004955420:23,590,636...23,666,689
Ensembl chrNW_004955420:23,589,071...23,666,680

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_004955445:7,498,223...7,530,828
Ensembl chrNW_004955445:7,492,257...7,531,862

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_004955445:7,472,579...7,492,632
Ensembl chrNW_004955445:7,472,562...7,495,774

G

molybdenum cofactor synthesis 3

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

PMID:10642597 PMID:10642602 PMID:28492532

NCBI chrNW_004955445:7,470,030...7,472,323
Ensembl chrNW_004955445:7,470,888...7,472,267

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_004955467:9,335,488...9,339,888
Ensembl chrNW_004955467:9,335,488...9,339,874

G

SRY-box transcription factor 15

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

NCBI chrNW_004955467:9,333,620...9,335,498
Ensembl chrNW_004955467:9,333,643...9,335,498

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_004955413:33,460,975...33,469,935
Ensembl chrNW_004955413:33,465,982...33,466,953

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_004955442:12,476,055...12,487,613

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_004955413:33,030,994...33,039,622
Ensembl chrNW_004955413:33,029,116...33,039,700

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_004955409:3,476,527...3,532,683

G

arylsulfatase A

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771

G

bromodomain containing 1

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

NCBI chrNW_004955413:32,935,827...32,973,820
Ensembl chrNW_004955413:32,935,827...32,973,804

G

choline kinase beta

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,588,375...33,592,054
Ensembl chrNW_004955413:33,588,600...33,591,758

G

ciliary microtubule associated protein 1B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,509,185...33,511,002
Ensembl chrNW_004955413:33,509,244...33,510,607

G

carnitine palmitoyltransferase 1B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,578,734...33,588,055
Ensembl chrNW_004955413:33,578,355...33,588,674

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_004955413:33,039,931...33,046,622
Ensembl chrNW_004955413:33,040,024...33,046,390

G

DENN domain containing 6B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,324,081...33,336,518
Ensembl chrNW_004955413:33,324,087...33,336,518

G

histone deacetylase 10

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,272,600...33,277,893
Ensembl chrNW_004955413:33,272,714...33,277,686

G

kelch domain containing 7B

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,534,794...33,536,614

G

lipase maturation factor 2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,487,970...33,492,033
Ensembl chrNW_004955413:33,487,917...33,492,033

G

protein SCO2 homolog, mitochondrial

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,503,882...33,505,417

G

mitogen-activated protein kinase 11

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,287,860...33,293,948
Ensembl chrNW_004955413:33,286,390...33,294,227

G

mitogen-activated protein kinase 12

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,278,913...33,285,920
Ensembl chrNW_004955413:33,279,344...33,286,422

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_004955413:33,608,092...33,617,984
Ensembl chrNW_004955413:33,608,655...33,617,255

G

myo-inositol oxygenase

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,476,097...33,478,539
Ensembl chrNW_004955413:33,476,033...33,478,539

G

modulator of VRAC current 1

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149

G

Mov10 like RNA helicase 1

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,142,857...33,208,897
Ensembl chrNW_004955413:33,142,918...33,208,329

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_004955413:33,492,348...33,503,804

G

pannexin 2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,220,145...33,224,241
Ensembl chrNW_004955413:33,220,140...33,224,344

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_004955413:33,068,033...33,071,344

G

plexin B2

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,297,617...33,314,371
Ensembl chrNW_004955413:33,298,317...33,309,961

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_004955413:33,362,879...33,425,361
Ensembl chrNW_004955413:33,385,084...33,425,226

G

SET binding factor 1

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,427,283...33,450,581
Ensembl chrNW_004955413:33,427,214...33,452,415

G

selenoprotein O

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,235,382...33,253,484
Ensembl chrNW_004955413:33,245,456...33,256,387

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_004955413:33,537,646...33,573,787
Ensembl chrNW_004955413:33,537,753...33,563,373

G

TraB domain containing

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,229,796...33,233,686
Ensembl chrNW_004955413:33,221,807...33,237,274

G

tubulin tyrosine ligase like 8

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,086,528...33,119,801
Ensembl chrNW_004955413:33,088,932...33,119,031

G

tubulin gamma complex component 6

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,252,418...33,272,593
Ensembl chrNW_004955413:33,253,524...33,272,215

G

thymidine phosphorylase

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

PMID:15639192 PMID:28492532 PMID:31481313

NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748

G

zinc finger BED-type containing 4

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

NCBI chrNW_004955413:33,007,750...33,021,180
Ensembl chrNW_004955413:33,007,750...33,021,180

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_004955414:13,832,808...13,863,076
Ensembl chrNW_004955414:13,832,788...13,863,184

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_004955419:26,423,243...26,427,384
Ensembl chrNW_004955419:26,423,243...26,432,024

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_004955419:26,801,924...26,852,116
Ensembl chrNW_004955419:26,801,925...26,851,627

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_004955419:27,471,539...27,553,078
Ensembl chrNW_004955419:27,471,930...27,488,065

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_004955459:25,649...30,215
Ensembl chrNW_004955459:25,649...30,215

G

collagen type XV alpha 1 chain

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,577,172...26,687,750
Ensembl chrNW_004955419:26,574,835...26,687,803

G

coronin 2A

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,323,164...27,386,488
Ensembl chrNW_004955419:27,348,452...27,388,965

G

endoplasmic reticulum protein 44

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:25,584,404...25,665,590
Ensembl chrNW_004955419:25,584,404...25,665,590

G

forkhead box E1

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,616,606...27,619,908

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_004955419:26,872,734...27,241,917
Ensembl chrNW_004955419:26,872,728...27,239,464

G

polypeptide N-acetylgalactosaminyltransferase 12

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,760,500...26,788,933
Ensembl chrNW_004955419:26,760,500...26,788,933

G

hemogen

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,524,008...27,548,375
Ensembl chrNW_004955419:27,523,730...27,547,571

G

inversin

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:25,445,404...25,584,244
Ensembl chrNW_004955419:25,444,582...25,581,201

G

N-acetylneuraminate synthase

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952

G

nuclear cap binding protein subunit 1

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,778,300...27,819,878
Ensembl chrNW_004955419:27,778,300...27,819,878

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_004955419:25,779,368...25,817,445
Ensembl chrNW_004955419:25,779,178...25,818,706

G

SEC61 translocon subunit beta

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,414,891...26,423,260
Ensembl chrNW_004955419:26,410,911...26,423,718

G

syntaxin 17

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:25,674,771...25,741,357
Ensembl chrNW_004955419:25,674,771...25,741,355

G

TBC1 domain family member 2

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,266,214...27,312,908
Ensembl chrNW_004955419:27,266,207...27,312,839

G

tudor domain containing 7

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,919,664...27,983,426
Ensembl chrNW_004955419:27,916,011...27,976,163

G

transforming growth factor beta receptor 1

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017

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_004955481:4,772,394...4,776,524
Ensembl chrNW_004955481:4,772,401...4,776,524

G

tropomodulin 1

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,841,424...27,915,540
Ensembl chrNW_004955419:27,841,424...27,915,540

G

tripartite motif containing 14

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,390,098...27,420,727
Ensembl chrNW_004955419:27,390,173...27,419,681

G

tRNA methyltransferase O

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,553,040...27,568,417
Ensembl chrNW_004955419:27,553,058...27,568,332

G

thiosulfate sulfurtransferase like domain containing 2

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

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,820,265...27,841,210
Ensembl chrNW_004955419:27,823,503...27,842,986

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_004955419:27,751,042...27,774,917
Ensembl chrNW_004955419:27,751,043...27,774,917

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_004955412:20,256,467...20,270,172
Ensembl chrNW_004955412:20,256,293...20,271,278

G

C2CD2 like

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

PMID:22742743 PMID:28492532

NCBI chrNW_004955412:20,214,915...20,232,260
Ensembl chrNW_004955412:20,223,890...20,236,709

G

Cbl proto-oncogene

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

PMID:22742743 PMID:28492532

NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539

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_004955412:20,205,381...20,217,874
Ensembl chrNW_004955412:20,205,381...20,217,871

G

dynein regulatory complex subunit 12 homolog

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

PMID:22742743 PMID:28492532

NCBI chrNW_004955412:20,292,619...20,297,902
Ensembl chrNW_004955412:20,292,769...20,297,053

G

histone H4 transcription factor

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

PMID:22742743 PMID:28492532

NCBI chrNW_004955412:20,236,607...20,247,288
Ensembl chrNW_004955412:20,242,317...20,249,456

G

hydroxymethylbilane synthase

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

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635

G

NHERF family PDZ scaffold protein 4

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

PMID:22742743 PMID:28492532

NCBI chrNW_004955412:20,287,543...20,292,580
Ensembl chrNW_004955412:20,288,506...20,292,134

G

NLR family member X1

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

PMID:22742743 PMID:28492532

NCBI chrNW_004955412:20,275,767...20,287,414
Ensembl chrNW_004955412:20,275,917...20,287,414

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_004955442:12,476,055...12,487,613

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_004955442:12,467,077...12,475,902

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_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909

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_004955482:5,311,434...5,337,684
Ensembl chrNW_004955482:5,311,434...5,337,697

G

cilia and flagella associated protein 68

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

PMID:25966638 PMID:28492532

NCBI chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070

G

crystallin alpha B

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

PMID:25966638 PMID:28492532

NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426

G

chromosome unknown C11orf52 homolog

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

PMID:25966638 PMID:28492532

NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962

G

DIX domain containing 1

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

PMID:25966638 PMID:28492532

NCBI chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850

G

dihydrolipoamide S-acetyltransferase

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

PMID:25966638 PMID:28492532

NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239

G

ferredoxin-fold anticodon binding domain containing 1

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

PMID:25966638 PMID:28492532

NCBI chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395

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_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727

G

tectonic family member 2

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

NCBI chrNW_004955482:5,344,113...5,362,519
Ensembl chrNW_004955482:5,342,821...5,362,426

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_004955570:1,310,894...1,312,952
Ensembl chrNW_004955570:1,311,056...1,312,672

G

nucleoporin 188

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

NCBI chrNW_004955570:1,312,998...1,369,513
Ensembl chrNW_004955570:1,312,998...1,369,513

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_004955532:3,810,469...3,823,456
Ensembl chrNW_004955532:3,810,464...3,823,456

G

BRCA1 associated protein 1

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

NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645

G

dynein axonemal heavy chain 1

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

NCBI chrNW_004955430:2,323,928...2,391,470
Ensembl chrNW_004955430:2,327,584...2,391,423

G

glycosyltransferase 8 domain containing 1

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

NCBI chrNW_004955430:2,678,166...2,690,555
Ensembl chrNW_004955430:2,678,166...2,690,555

G

glycerate kinase

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

NCBI chrNW_004955532:3,933,964...3,939,858
Ensembl chrNW_004955532:3,936,160...3,942,868

G

G protein nucleolar 3

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

NCBI chrNW_004955430:2,675,477...2,678,113

G

inter-alpha-trypsin inhibitor heavy chain 1

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

NCBI chrNW_004955430:2,738,128...2,751,007
Ensembl chrNW_004955430:2,737,859...2,751,379

G

inter-alpha-trypsin inhibitor heavy chain 3

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

NCBI chrNW_004955430:2,753,974...2,767,436
Ensembl chrNW_004955430:2,753,996...2,767,324

G

inter-alpha-trypsin inhibitor heavy chain 4

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

NCBI chrNW_004955430:2,772,064...2,787,912
Ensembl chrNW_004955430:2,770,373...2,789,131

G

musculoskeletal, embryonic nuclear protein 1

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

NCBI chrNW_004955430:2,790,090...2,793,880
Ensembl chrNW_004955430:2,790,090...2,793,880

G

NIMA related kinase 4

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

NCBI chrNW_004955430:2,695,674...2,733,204
Ensembl chrNW_004955430:2,696,493...2,733,392

G

nischarin

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

NCBI chrNW_004955430:2,443,029...2,488,267
Ensembl chrNW_004955430:2,443,029...2,491,123

G

5'-nucleotidase domain containing 2

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

NCBI chrNW_004955430:2,517,943...2,526,423
Ensembl chrNW_004955430:2,517,943...2,526,423

G

polybromo 1

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

NCBI chrNW_004955430:2,536,086...2,671,094
Ensembl chrNW_004955430:2,536,086...2,670,617

G

PHD finger protein 7

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

NCBI chrNW_004955430:2,400,866...2,413,188
Ensembl chrNW_004955430:2,400,866...2,412,419

G

POC1 centriolar protein A

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

NCBI chrNW_004955532:3,707,680...3,790,565
Ensembl chrNW_004955532:3,708,274...3,789,797

G

protein phosphatase, Mg2+/Mn2+ dependent 1M

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

NCBI chrNW_004955532:3,854,699...3,858,923
Ensembl chrNW_004955532:3,854,699...3,858,923

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_004955430:3,055,766...3,096,501
Ensembl chrNW_004955430:3,052,368...3,096,726

G

semaphorin 3G

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

NCBI chrNW_004955430:2,409,847...2,433,001
Ensembl chrNW_004955430:2,422,934...2,433,001

G

Scm like with four mbt domains 1

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

NCBI chrNW_004955430:2,850,149...3,014,859
Ensembl chrNW_004955430:2,856,054...2,915,517

G

small integral membrane protein 4

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

NCBI chrNW_004956313:1,988...5,240
Ensembl chrNW_004956313:1,988...5,240

G

signal peptidase complex subunit 1

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

NCBI chrNW_004955430:2,689,927...2,692,119
Ensembl chrNW_004955430:2,689,927...2,692,119

G

stabilin 1

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

NCBI chrNW_004955430:2,491,960...2,518,063
Ensembl chrNW_004955430:2,491,974...2,518,063

G

STIM activating enhancer

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

NCBI chrNW_004955430:2,794,324...2,848,619
Ensembl chrNW_004955430:2,794,324...2,848,617

G

toll like receptor 9

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

NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582

G

troponin C1, slow skeletal and cardiac type

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

NCBI chrNW_004955430:2,438,644...2,441,596
Ensembl chrNW_004955430:2,434,874...2,441,596

G

twinfilin actin binding protein 2

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

NCBI chrNW_004955532:3,835,620...3,844,760
Ensembl chrNW_004955532:3,834,579...3,844,760

G

WD repeat domain 82

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

NCBI chrNW_004955532:3,860,785...3,880,714
Ensembl chrNW_004955532:3,863,492...3,880,713

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_004955431:5,297,477...5,320,653
Ensembl chrNW_004955431:5,297,715...5,306,590

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_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616

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_004955447:15,578,661...15,588,218

congenital disorder of glycosylation Ir

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 7 member A2

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

NCBI chrNW_004955452:6,844...13,868

G

aldehyde dehydrogenase 4 family member A1

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

NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872

G

alkaline phosphatase, biomineralization associated

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

NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226

G

complement C1q A chain

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

NCBI chrNW_004955452:2,753,362...2,756,220
Ensembl chrNW_004955452:2,752,970...2,756,488

G

complement C1q B chain

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

NCBI chrNW_004955452:2,765,844...2,771,695
Ensembl chrNW_004955452:2,769,752...2,772,534

G

complement C1q C chain

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

NCBI chrNW_004955452:2,759,079...2,762,522
Ensembl chrNW_004955452:2,758,821...2,762,522

G

calcium/calmodulin dependent protein kinase II inhibitor 1

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

NCBI chrNW_004955452:1,044,696...1,046,657
Ensembl chrNW_004955452:1,043,459...1,046,669

G

capping actin protein of muscle Z-line subunit beta

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

NCBI chrNW_004955452:34,454...168,514
Ensembl chrNW_004955452:30,589...169,693

G

cytidine deaminase

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

NCBI chrNW_004955452:1,131,968...1,156,777
Ensembl chrNW_004955452:1,132,049...1,156,565

G

cell division cycle 42

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

NCBI chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042

G

chymotrypsin like elastase 3B

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

NCBI chrNW_004955452:2,190,177...2,194,453

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_004955452:1,186,733...1,195,691
Ensembl chrNW_004955452:1,186,733...1,240,087

G

endothelin converting enzyme 1

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

NCBI chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489

G

eukaryotic translation initiation factor 4 gamma 3

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

NCBI chrNW_004955452:1,328,103...1,625,341
Ensembl chrNW_004955452:1,328,345...1,625,934

G

ER membrane protein complex subunit 1

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

NCBI chrNW_004955527:19,069...45,951
Ensembl chrNW_004955527:19,069...45,951

G

EPH receptor A8

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

NCBI chrNW_004955452:2,702,277...2,729,161
Ensembl chrNW_004955452:2,701,803...2,729,277

G

family with sequence similarity 43 member B

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

NCBI chrNW_004955452:1,102,342...1,104,346
Ensembl chrNW_004955452:1,102,362...1,103,383

G

heterochromatin protein 1 binding protein 3

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

NCBI chrNW_004955452:1,271,133...1,308,167
Ensembl chrNW_004955452:1,270,658...1,308,167

G

heparan sulfate proteoglycan 2

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

NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280

G

5-hydroxytryptamine receptor 6

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

NCBI chrNW_004955452:323,641...338,312

G

intermediate filament family orphan 2

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

NCBI chrNW_004955527:294,950...332,716
Ensembl chrNW_004955527:294,488...333,823

G

kinesin family member 17

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

NCBI chrNW_004955452:1,197,839...1,239,209

G

low density lipoprotein receptor class A domain containing 2

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

NCBI chrNW_004955452:2,031,868...2,057,264

G

mitochondrial contact site and cristae organizing system subunit 10

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

NCBI chrNW_004955452:248,892...289,711
Ensembl chrNW_004955452:248,974...289,480

G

MRT4 homolog, ribosome maturation factor

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

NCBI chrNW_004955527:12,547...18,906
Ensembl chrNW_004955527:12,547...18,906

G

mitochondrial E3 ubiquitin protein ligase 1

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

NCBI chrNW_004955452:1,059,168...1,066,096
Ensembl chrNW_004955452:1,058,930...1,066,096

G

NBL1, DAN family BMP antagonist

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

NCBI chrNW_004955452:316,867...319,883
Ensembl chrNW_004955452:308,573...319,989

G

OTU deubiquitinase 3

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

NCBI chrNW_004955452:488,295...516,162
Ensembl chrNW_004955452:487,994...516,217

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_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125

G

phospholipase A2 group IIC

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

NCBI chrNW_004955452:771,031...783,323
Ensembl chrNW_004955452:770,952...783,375

G

phospholipase A2 group IID

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

NCBI chrNW_004955452:738,133...743,718
Ensembl chrNW_004955452:736,600...743,806

G

phospholipase A2 group IIE

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

NCBI chrNW_004955452:522,314...526,095
Ensembl chrNW_004955452:520,361...525,846

G

phospholipase A2 group IIF

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

NCBI chrNW_004955452:755,738...765,304
Ensembl chrNW_004955452:755,478...763,571

G

phospholipase A2 group V

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

NCBI chrNW_004955452:662,281...721,507
Ensembl chrNW_004955452:710,271...723,142

G

RAP1 GTPase activating protein

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

NCBI chrNW_004955452:1,886,557...1,950,942
Ensembl chrNW_004955452:1,886,557...1,933,977

G

ring finger protein 186

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

NCBI chrNW_004955452:433,413...450,261

G

SH2 domain containing 5

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

NCBI chrNW_004955452:1,240,621...1,252,088
Ensembl chrNW_004955452:1,240,148...1,248,569

G

solute carrier family 66 member 1

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

NCBI chrNW_004955452:17,459...22,259
Ensembl chrNW_004955452:16,770...26,189

G

transmembrane and coiled-coil domains 4

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

NCBI chrNW_004955452:338,779...425,901
Ensembl chrNW_004955452:338,779...414,201

G

ubiquitin protein ligase E3 component n-recognin 4

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

NCBI chrNW_004955527:57,335...185,727
Ensembl chrNW_004955527:57,335...185,727

G

UBX domain protein 10

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

NCBI chrNW_004955452:790,950...799,378
Ensembl chrNW_004955452:790,950...799,378

G

ubiquitin specific peptidase 48

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

NCBI chrNW_004955452:1,959,396...2,031,829
Ensembl chrNW_004955452:1,959,396...2,031,829

G

von Willebrand factor A domain containing 5B1

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

NCBI chrNW_004955452:874,819...938,134
Ensembl chrNW_004955452:882,051...938,333

G

Wnt family member 4

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

NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989

G

zinc finger and BTB domain containing 40

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

NCBI chrNW_004955452:2,597,020...2,672,496
Ensembl chrNW_004955452:2,632,597...2,672,610

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_004955423:26,408,775...26,437,527
Ensembl chrNW_004955423:26,408,595...26,437,527

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_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029

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_004955570:709,009...712,573
Ensembl chrNW_004955570:708,747...712,573

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_004955419:874,959...883,160
Ensembl chrNW_004955419:873,289...883,160

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_004955419:942,147...950,968
Ensembl chrNW_004955419:942,270...950,922

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_004955570:716,124...732,551
Ensembl chrNW_004955570:707,637...732,980

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_004955419:740,815...743,036
Ensembl chrNW_004955419:740,815...743,036

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_004955419:707,850...738,763
Ensembl chrNW_004955419:707,847...736,339

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_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694

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_004955419:853,891...871,729
Ensembl chrNW_004955419:851,152...871,522

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_004955419:1,121,127...1,154,356
Ensembl chrNW_004955419:1,121,127...1,154,356

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_004955419:656,311...661,928
Ensembl chrNW_004955419:656,275...661,928

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_004955419:1,089,602...1,119,620
Ensembl chrNW_004955419:1,072,243...1,119,620

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_004955419:745,400...753,819
Ensembl chrNW_004955419:745,344...753,819

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_004955419:608,313...612,813
Ensembl chrNW_004955419:608,365...612,479

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_004955419:940,508...942,375
Ensembl chrNW_004955419:940,508...942,375

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_004955419:891,133...921,062
Ensembl chrNW_004955419:891,133...921,062

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_004955419:621,445...656,172
Ensembl chrNW_004955419:618,979...656,189

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_004955419:756,768...764,897
Ensembl chrNW_004955419:756,747...764,897

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_004955419:771,721...792,756
Ensembl chrNW_004955419:772,837...796,724

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_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759

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_004955419:922,901...926,624
Ensembl chrNW_004955419:922,901...926,624

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_004955419:926,561...940,368
Ensembl chrNW_004955419:926,723...940,138

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_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592

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_004955412:26,593,142...26,624,143
Ensembl chrNW_004955412:26,595,666...26,623,621

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_004955430:22,986,673...23,070,923
Ensembl chrNW_004955430:22,986,762...23,069,383

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_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608

G

plexin B3

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

NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445

G

SRSF protein kinase 3

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

NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709

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_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498

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_004955545:1,621,515...1,622,103
Ensembl chrNW_004955545:1,617,538...1,638,062

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_004955442:12,476,055...12,487,613

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_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719

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_004955419:26,423,243...26,427,384
Ensembl chrNW_004955419:26,423,243...26,432,024

G

ankyrin repeat and sterile alpha motif domain containing 6

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,801,924...26,852,116
Ensembl chrNW_004955419:26,801,925...26,851,627

G

acidic nuclear phosphoprotein 32 family member B

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,471,539...27,553,078
Ensembl chrNW_004955419:27,471,930...27,488,065

G

collagen type XV alpha 1 chain

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,577,172...26,687,750
Ensembl chrNW_004955419:26,574,835...26,687,803

G

coronin 2A

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,323,164...27,386,488
Ensembl chrNW_004955419:27,348,452...27,388,965

G

endoplasmic reticulum protein 44

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:25,584,404...25,665,590
Ensembl chrNW_004955419:25,584,404...25,665,590

G

forkhead box E1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,616,606...27,619,908

G

gamma-aminobutyric acid type B receptor subunit 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,872,734...27,241,917
Ensembl chrNW_004955419:26,872,728...27,239,464

G

polypeptide N-acetylgalactosaminyltransferase 12

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,760,500...26,788,933
Ensembl chrNW_004955419:26,760,500...26,788,933

G

hemogen

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,524,008...27,548,375
Ensembl chrNW_004955419:27,523,730...27,547,571

G

inversin

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:25,445,404...25,584,244
Ensembl chrNW_004955419:25,444,582...25,581,201

G

N-acetylneuraminate synthase

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952

G

nuclear cap binding protein subunit 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,778,300...27,819,878
Ensembl chrNW_004955419:27,778,300...27,819,878

G

nuclear receptor subfamily 4 group A member 3

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:25,779,368...25,817,445
Ensembl chrNW_004955419:25,779,178...25,818,706

G

SEC61 translocon subunit beta

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,414,891...26,423,260
Ensembl chrNW_004955419:26,410,911...26,423,718

G

syntaxin 17

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:25,674,771...25,741,357
Ensembl chrNW_004955419:25,674,771...25,741,355

G

TBC1 domain family member 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,266,214...27,312,908
Ensembl chrNW_004955419:27,266,207...27,312,839

G

tudor domain containing 7

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,919,664...27,983,426
Ensembl chrNW_004955419:27,916,011...27,976,163

G

transforming growth factor beta receptor 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017

G

tropomodulin 1

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,841,424...27,915,540
Ensembl chrNW_004955419:27,841,424...27,915,540

G

tripartite motif containing 14

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,390,098...27,420,727
Ensembl chrNW_004955419:27,390,173...27,419,681

G

tRNA methyltransferase O

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,553,040...27,568,417
Ensembl chrNW_004955419:27,553,058...27,568,332

G

thiosulfate sulfurtransferase like domain containing 2

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,820,265...27,841,210
Ensembl chrNW_004955419:27,823,503...27,842,986

G

XPA, DNA damage recognition and repair factor

ClinVar Annotator: match by term: CDG Ii

PMID:20813212 PMID:28492532

NCBI chrNW_004955419:27,751,042...27,774,917
Ensembl chrNW_004955419:27,751,043...27,774,917

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_004955419:26,423,243...26,427,384
Ensembl chrNW_004955419:26,423,243...26,432,024

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_004955409:13,019,941...13,028,378
Ensembl chrNW_004955409:13,020,313...13,027,849

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_004955409:13,029,578...13,032,406
Ensembl chrNW_004955409:13,030,569...13,031,912

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_004955599:414,338...438,581
Ensembl chrNW_004955599:414,392...438,581

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_004955424:11,779,805...11,802,446
Ensembl chrNW_004955424:11,779,597...11,802,446

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_004955424:12,130,496...12,258,684
Ensembl chrNW_004955424:12,130,607...12,258,522

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_004955424:11,259,288...11,262,413
Ensembl chrNW_004955424:11,259,432...11,262,269

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_004955424:11,583,508...11,590,626
Ensembl chrNW_004955424:11,583,370...11,590,947

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_004955424:11,304,968...11,312,679
Ensembl chrNW_004955424:11,304,988...11,317,294

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_004955424:12,379,222...12,402,161

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_004955424:11,362,240...11,413,140
Ensembl chrNW_004955424:11,392,812...11,413,140

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_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902

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_004955424:11,233,601...11,236,397
Ensembl chrNW_004955424:11,232,376...11,236,885

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_004955424:11,262,502...11,271,680
Ensembl chrNW_004955424:11,262,502...11,271,680

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_004955424:11,978,118...11,990,169
Ensembl chrNW_004955424:11,978,469...11,990,041

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_004955424:12,339,152...12,341,925
Ensembl chrNW_004955424:12,338,979...12,342,078

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_004955424:12,666,280...12,683,023
Ensembl chrNW_004955424:12,664,104...12,683,023

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_004955424:12,777,638...13,308,358
Ensembl chrNW_004955424:12,777,595...13,305,056

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_004955424:12,339,588...12,378,116
Ensembl chrNW_004955424:12,349,326...12,378,116

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_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170

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_004955424:11,324,741...11,327,466
Ensembl chrNW_004955424:11,324,308...11,327,170

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_004955424:11,288,897...11,292,143
Ensembl chrNW_004955424:11,289,745...11,292,202

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_004955424:13,336,189...13,355,368
Ensembl chrNW_004955424:13,336,189...13,355,423

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_004955424:11,236,415...11,255,801
Ensembl chrNW_004955424:11,236,836...11,259,570

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_004955424:11,556,724...11,574,923
Ensembl chrNW_004955424:11,556,315...11,574,923

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_004955424:11,317,605...11,321,192
Ensembl chrNW_004955424:11,290,849...11,324,464

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_004955424:11,312,778...11,314,564
Ensembl chrNW_004955424:11,312,778...11,314,564

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_004955424:11,538,344...11,550,119
Ensembl chrNW_004955424:11,539,399...11,550,220

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_004955424:12,424,984...12,431,562

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_004955424:11,282,562...11,284,970
Ensembl chrNW_004955424:11,282,091...11,286,753

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_004955424:12,403,090...12,408,055
Ensembl chrNW_004955424:12,402,923...12,410,735

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_004955424:12,506,738...12,544,284
Ensembl chrNW_004955424:12,506,854...12,542,229

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_004955424:11,344,504...11,358,344
Ensembl chrNW_004955424:11,344,220...11,360,832

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_004955424:12,545,985...12,659,238
Ensembl chrNW_004955424:12,545,985...12,659,293

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_004955424:11,426,020...11,537,141
Ensembl chrNW_004955424:11,449,819...11,535,379

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_004955424:12,408,059...12,422,424
Ensembl chrNW_004955424:12,408,059...12,423,164

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_004955424:12,711,064...12,716,000
Ensembl chrNW_004955424:12,711,064...12,716,000

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_004955424:11,831,910...11,879,577
Ensembl chrNW_004955424:11,831,361...11,879,577

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_004955424:11,612,124...11,722,130
Ensembl chrNW_004955424:11,617,993...11,714,203

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_004955424:11,269,426...11,275,200
Ensembl chrNW_004955424:11,269,426...11,275,200

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_004955424:11,961,994...11,969,610
Ensembl chrNW_004955424:11,961,994...11,969,610

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_004955424:11,297,666...11,304,937
Ensembl chrNW_004955424:11,295,222...11,304,885

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_004955424:11,321,393...11,323,651
Ensembl chrNW_004955424:11,317,605...11,324,464

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_004955424:11,358,694...11,362,138
Ensembl chrNW_004955424:11,358,694...11,362,053

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_004955518:3,211,729...3,276,057
Ensembl chrNW_004955518:3,211,731...3,276,417

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_004955422:954,108...961,522
Ensembl chrNW_004955422:954,089...961,522

G

autophagy and beclin 1 regulator 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,455,392...1,644,368
Ensembl chrNW_004955422:1,455,380...1,644,452

G

ADP ribosylation factor GTPase activating protein 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:995,672...1,006,008
Ensembl chrNW_004955422:995,672...1,006,008

G

Rho GTPase activating protein 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,378,426...1,395,439
Ensembl chrNW_004955422:1,378,426...1,396,899

G

autophagy related 13

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,398,646...1,432,440
Ensembl chrNW_004955422:1,398,593...1,432,438

G

C1q and TNF related 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:705,165...709,261
Ensembl chrNW_004955422:708,161...709,167

G

CUGBP Elav-like family member 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:742,017...817,649
Ensembl chrNW_004955422:742,017...817,647

G

cholinergic receptor muscarinic 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,647,663...1,655,363
Ensembl chrNW_004955422:1,647,663...1,655,363

G

cytoskeleton associated protein 5

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,266,686...1,354,323
Ensembl chrNW_004955422:1,279,158...1,353,894

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_004955422:1,702,131...1,734,603
Ensembl chrNW_004955422:1,700,692...1,734,773

G

cryptochrome circadian regulator 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:2,084,020...2,114,980
Ensembl chrNW_004955422:2,083,138...2,115,072

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_004955422:1,005,941...1,179,128
Ensembl chrNW_004955422:1,005,941...1,172,618

G

damage specific DNA binding protein 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:961,602...977,066
Ensembl chrNW_004955422:961,893...974,338

G

diacylglycerol kinase zeta

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,658,237...1,687,000
Ensembl chrNW_004955422:1,657,926...1,695,404

G

coagulation factor II, thrombin

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517

G

family with sequence similarity 180 member B

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:709,915...713,027

G

formin binding protein 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:613,817...641,691
Ensembl chrNW_004955422:612,171...640,892

G

Frey regulator of sperm-oocyte fusion 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:2,063,253...2,063,942

G

harbinger transposase derived 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,432,749...1,441,347
Ensembl chrNW_004955422:1,434,061...1,443,538

G

kelch repeat and BTB domain containing 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:717,977...722,918
Ensembl chrNW_004955422:718,065...726,324

G

LARGE xylosyl- and glucuronyltransferase 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:2,045,986...2,052,086
Ensembl chrNW_004955422:2,045,986...2,050,863

G

LDL receptor related protein 4

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,191,338...1,238,227
Ensembl chrNW_004955422:1,191,338...1,238,227

G

MAP kinase activating death domain

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:902,969...940,201
Ensembl chrNW_004955422:902,969...940,201

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_004955422:2,064,010...2,081,681
Ensembl chrNW_004955422:2,061,851...2,082,514

G

midkine

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,655,351...1,657,026
Ensembl chrNW_004955422:1,655,358...1,657,044

G

mitochondrial carrier 2

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:672,301...690,989
Ensembl chrNW_004955422:672,301...690,989

G

myosin binding protein C3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725

G

NADH:ubiquinone oxidoreductase core subunit S3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:713,370...717,926
Ensembl chrNW_004955422:709,784...717,926

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_004955422:940,310...954,170
Ensembl chrNW_004955422:940,310...949,049

G

nucleoporin 160

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:561,339...598,598
Ensembl chrNW_004955422:561,339...599,575

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_004955422:989,605...995,140

G

peroxisomal biogenesis factor 16

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:2,054,867...2,060,871
Ensembl chrNW_004955422:2,055,446...2,061,729

G

PHD finger protein 21A

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,857,335...2,045,816
Ensembl chrNW_004955422:1,857,335...2,045,816

G

proteasome 26S subunit, ATPase 3

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:837,934...843,161
Ensembl chrNW_004955422:837,573...845,341

G

protein tyrosine phosphatase mitochondrial 1

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:723,236...724,761

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289

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_004955422:2,130,561...2,139,145
Ensembl chrNW_004955422:2,130,453...2,139,145

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:845,076...852,772
Ensembl chrNW_004955422:845,678...852,772

G

Spi-1 proto-oncogene

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:873,735...886,560
Ensembl chrNW_004955422:873,735...886,560

G

zinc finger protein 408

ClinVar Annotator: match by term: Rambam Hasharon syndrome

PMID:16455955 PMID:24403049 PMID:28492532

NCBI chrNW_004955422:1,373,694...1,377,688

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_004955472:2,490,649...2,536,053
Ensembl chrNW_004955472:2,490,661...2,536,317

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_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212

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_004955493:1,967,157...2,031,220
Ensembl chrNW_004955493:1,967,313...2,031,062

G

glutamyl-tRNA synthetase 2, mitochondrial

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

NCBI chrNW_004955493:2,083,272...2,113,403
Ensembl chrNW_004955493:2,090,940...2,113,843

G

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

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

NCBI chrNW_004955493:2,041,791...2,068,720
Ensembl chrNW_004955493:2,042,105...2,068,718

G

partner and localizer of BRCA2

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

NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781

G

sodium channel epithelial 1 subunit beta

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

NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303

G

sodium channel epithelial 1 subunit gamma

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

NCBI chrNW_004955493:1,787,693...1,813,085
Ensembl chrNW_004955493:1,784,885...1,813,205

G

ubiquitin family domain containing 1

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

NCBI chrNW_004955493:2,114,160...2,129,236
Ensembl chrNW_004955493:2,113,579...2,125,948

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_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895

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_004955411:14,443,957...14,469,590
Ensembl chrNW_004955411:14,443,839...14,468,246

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_004955478:19,558...38,905
Ensembl chrNW_004955478:19,386...39,433

G

VCP nuclear cofactor family member 1

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

PMID:25741868 PMID:28492532

NCBI chrNW_004955553:230,193...251,322
Ensembl chrNW_004955553:232,369...251,265

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_004955484:7,357,066...7,363,239
Ensembl chrNW_004955484:7,357,066...7,363,302

G

peptide deformylase, mitochondrial

ClinVar Annotator: match by term: COG8-CDG

NCBI chrNW_004955484:7,363,861...7,366,159
Ensembl chrNW_004955484:7,363,861...7,366,159

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_004955410:11,651,587...11,920,866
Ensembl chrNW_004955410:11,653,058...11,920,718

G

dihydrouridine synthase 4 like

ClinVar Annotator: match by term: COG5-CDG

PMID:23228021 PMID:25741868 PMID:28492532

NCBI chrNW_004955410:11,919,710...11,931,593
Ensembl chrNW_004955410:11,919,625...11,932,393

G

G protein-coupled receptor 22

ClinVar Annotator: match by term: COG5-CDG

PMID:23228021 PMID:28492532

NCBI chrNW_004955410:11,841,813...11,849,441
Ensembl chrNW_004955410:11,841,850...11,849,441

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: COG5-CDG

NCBI chrNW_004955410:11,626,743...11,652,343
Ensembl chrNW_004955410:11,626,743...11,652,343

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_004955484:3,278,624...3,307,580
Ensembl chrNW_004955484:3,279,302...3,307,543

G

fucose kinase

ClinVar Annotator: match by term: COG4-CDG

NCBI chrNW_004955484:3,259,165...3,278,621
Ensembl chrNW_004955484:3,263,795...3,278,078

G

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

ClinVar Annotator: match by term: COG4-CDG

NCBI chrNW_004955484:3,176,214...3,230,433
Ensembl chrNW_004955484:3,177,104...3,230,433

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_004955447:14,623,532...14,648,121
Ensembl chrNW_004955447:14,622,728...14,648,005

G

ADP ribosylation factor like GTPase 9

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chrNW_004955447:14,500,696...14,515,286

G

centrosomal protein 135

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:14,934,334...15,004,077
Ensembl chrNW_004955447:14,934,269...15,004,302

G

clock circadian regulator

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:15,394,496...15,537,969
Ensembl chrNW_004955447:15,454,630...15,530,906

G

capping protein inhibiting regulator of actin dynamics

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:14,650,035...14,672,593

G

exocyst complex component 1

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:15,049,087...15,100,628
Ensembl chrNW_004955447:15,048,959...15,100,660

G

HOP homeobox

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chrNW_004955447:14,417,014...14,417,797

G

kinase insert domain receptor

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734

G

neuromedin U

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:15,324,702...15,361,726
Ensembl chrNW_004955447:15,328,973...15,357,830

G

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:14,558,468...14,571,081
Ensembl chrNW_004955447:14,558,468...14,574,052

G

phosducin like 2

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:15,364,116...15,386,071
Ensembl chrNW_004955447:15,363,806...15,386,071

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373

G

phosphoribosyl pyrophosphate amidotransferase

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:14,552,846...14,607,416
Ensembl chrNW_004955447:14,574,407...14,607,416

G

serine peptidase inhibitor Kazal type 2

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chrNW_004955447:14,285,248...14,291,835

G

sperm microtubule associated protein 2 like

ClinVar Annotator: match by term: TMEM165-CDG

NCBI chrNW_004955447:14,454,884...14,496,320

G

steroid 5 alpha-reductase 3

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:15,578,661...15,588,218

G

signal recognition particle 72

ClinVar Annotator: match by term: TMEM165-CDG

PMID:22521416 PMID:26657937 PMID:28492532

NCBI chrNW_004955447:14,519,978...14,552,758
Ensembl chrNW_004955447:14,519,064...14,552,758

G

transmembrane protein 165

ClinVar Annotator: match by term: TMEM165-CDG

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

NCBI chrNW_004955447:15,538,958...15,543,885
Ensembl chrNW_004955447:15,538,958...15,543,892

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_004955431:6,641,116...6,703,797
Ensembl chrNW_004955431:6,637,327...6,703,828

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_004955543:1,358,086...1,367,838
Ensembl chrNW_004955543:1,357,997...1,367,897

G

A-Raf proto-oncogene, serine/threonine kinase

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

NCBI chrNW_004955516:521,479...532,980
Ensembl chrNW_004955516:521,479...533,212

G

bone morphogenetic protein 15

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

NCBI chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406

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_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364

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_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544

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_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753

G

cyclin B3

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

NCBI chrNW_004955543:1,377,932...1,444,327

G

cyclin dependent kinase 16

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

NCBI chrNW_004955516:860,474...873,338
Ensembl chrNW_004955516:860,480...873,338

G

complement factor properdin

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

NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492

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_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352

G

diacylglycerol kinase kappa

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

NCBI chrNW_004955543:1,468,328...1,601,101
Ensembl chrNW_004955543:1,468,328...1,601,101

G

EBP cholestenol delta-isomerase

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

NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370

G

ETS transcription factor ELK1

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

NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871

G

ES cell expressed Ras

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

NCBI chrNW_004955543:381,756...383,093

G

forkhead box P3

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

NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606

G

FtsJ RNA 2'-O-methyltransferase 1

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

NCBI chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111

G

GATA binding protein 1

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

NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061

G

glyoxalase domain containing 5

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

NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393

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_004955543:625,247...633,065

G

GRIP1 associated protein 1

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

NCBI chrNW_004955543:500,340...527,243
Ensembl chrNW_004955543:500,340...527,267

G

histone deacetylase 6

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

NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071

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_004955543:487,312...500,232
Ensembl chrNW_004955543:487,312...498,626

G

NADH:ubiquinone oxidoreductase subunit B11

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

NCBI chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207

G

OTU deubiquitinase 5

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

NCBI chrNW_004955543:452,172...484,564
Ensembl chrNW_004955543:452,121...484,560

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_004955543:383,984...387,885
Ensembl chrNW_004955543:384,123...387,744

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_004955543:444,314...449,201
Ensembl chrNW_004955543:444,314...449,201

G

proteolipid protein 2

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

NCBI chrNW_004955543:658,617...662,441
Ensembl chrNW_004955543:658,486...662,441

G

porcupine O-acyltransferase

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

NCBI chrNW_004955543:75,870...91,575
Ensembl chrNW_004955543:75,875...91,975

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_004955543:750,094...767,894
Ensembl chrNW_004955543:750,323...766,797

G

polyglutamine binding protein 1

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

NCBI chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205

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_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264

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_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662

G

RNA binding motif protein 10

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

NCBI chrNW_004955516:904,852...934,313
Ensembl chrNW_004955516:904,062...934,313

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_004955543:166,891...173,987
Ensembl chrNW_004955543:166,891...170,488

G

shroom family member 4

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

NCBI chrNW_004955543:1,810,125...2,046,144

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_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508

G

solute carrier family 38 member 5

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

NCBI chrNW_004955543:15,968...24,644
Ensembl chrNW_004955543:16,089...24,668

G

sperm acrosome associated 5

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

NCBI chrNW_004955516:103,674...106,082

G

SUV39H1 histone lysine methyltransferase

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

NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473

G

synapsin I

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

NCBI chrNW_004955516:460,258...521,484
Ensembl chrNW_004955516:460,198...521,484

G

synaptophysin

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

NCBI chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686

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_004955543:127,314...154,235
Ensembl chrNW_004955543:127,162...154,235

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_004955543:547,037...561,073
Ensembl chrNW_004955543:547,037...561,073

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_004955543:425,076...430,767
Ensembl chrNW_004955543:425,076...430,767

G

TIMP metallopeptidase inhibitor 1

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

NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118

G

ubiquitin like modifier activating enzyme 1

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

NCBI chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206

G

ubiquitin specific peptidase 11

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

NCBI chrNW_004955516:840,708...858,201
Ensembl chrNW_004955516:841,114...857,322

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_004955543:1,023,931...1,027,048

G

ubiquitously expressed prefoldin like chaperone

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

NCBI chrNW_004955516:421,402...429,804
Ensembl chrNW_004955516:420,616...430,134

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_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274

G

WD repeat domain 13

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

NCBI chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435

G

WD repeat domain 45

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

NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963

G

zinc finger protein 157

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

NCBI chrNW_004955516:692,871...727,103
Ensembl chrNW_004955516:692,871...727,103

G

zinc finger protein 182

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

NCBI chrNW_004955516:93,596...148,739

G

zinc finger protein 41

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

NCBI chrNW_004955516:611,591...646,109

G

zinc finger protein 81

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

NCBI chrNW_004955516:215,370...312,684
Ensembl chrNW_004955516:219,262...248,215

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_004955496:6,016,727...6,106,965
Ensembl chrNW_004955496:6,040,029...6,109,907

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_004955459:25,649...30,215
Ensembl chrNW_004955459:25,649...30,215

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_004955481:4,772,394...4,776,524
Ensembl chrNW_004955481:4,772,401...4,776,524

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_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357

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_004955492:7,669,956...7,683,293
Ensembl chrNW_004955492:7,672,746...7,683,728

G

calpain 9

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004955492:7,809,188...7,845,090
Ensembl chrNW_004955492:7,809,188...7,845,090

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_004955492:7,879,071...7,922,195
Ensembl chrNW_004955492:7,879,548...7,922,266

G

chromosome unknown C1orf198 homolog

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004955492:7,762,534...7,774,394

G

family with sequence similarity 89 member A

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004955492:7,646,755...7,665,500
Ensembl chrNW_004955492:7,646,757...7,665,500

G

polypeptide N-acetylgalactosaminyltransferase 2

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004955492:8,104,334...8,245,143
Ensembl chrNW_004955492:8,103,140...8,245,143

G

glyceronephosphate O-acyltransferase

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004955492:7,489,080...7,519,590
Ensembl chrNW_004955492:7,489,080...7,519,590

G

chromosome unknown open reading frame, human C1orf131

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004955492:7,519,800...7,535,234
Ensembl chrNW_004955492:7,521,604...7,536,744

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_004955492:8,032,220...8,090,898
Ensembl chrNW_004955492:8,032,220...8,090,898

G

tripartite motif containing 67

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004955492:7,538,492...7,578,257
Ensembl chrNW_004955492:7,543,916...7,578,886

G

tetratricopeptide repeat domain 13

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

PMID:24784932 PMID:28492532 PMID:32293671

NCBI chrNW_004955492:7,683,353...7,743,066
Ensembl chrNW_004955492:7,683,443...7,743,718

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_004955565:2,006,154...2,029,921

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_004955492:8,104,334...8,245,143
Ensembl chrNW_004955492:8,103,140...8,245,143

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_004955406:23,329,400...23,401,282
Ensembl chrNW_004955406:23,329,400...23,401,281

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_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542

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_004955460:8,620,913...8,634,778
Ensembl chrNW_004955460:8,620,209...8,634,778

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_004955408:29,968,962...29,977,896
Ensembl chrNW_004955408:29,968,934...29,979,794

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_004955484:3,259,165...3,278,621
Ensembl chrNW_004955484:3,263,795...3,278,078

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_004955466:4,248,414...4,481,942
Ensembl chrNW_004955466:4,246,336...4,399,751

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_004955484:3,259,165...3,278,621
Ensembl chrNW_004955484:3,263,795...3,278,078

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_004955490:4,069,866...4,140,494
Ensembl chrNW_004955490:4,069,494...4,140,532

G

calpain 6

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chrNW_004955490:4,499,888...4,526,060
Ensembl chrNW_004955490:4,499,882...4,526,060

G

chordin like 1

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chrNW_004955490:5,108,308...5,218,679
Ensembl chrNW_004955490:5,108,308...5,257,445

G

doublecortin

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chrNW_004955490:4,354,307...4,469,055
Ensembl chrNW_004955490:4,354,307...4,469,055

G

p21 (RAC1) activated kinase 3

ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36

NCBI chrNW_004955490:4,538,933...4,833,851
Ensembl chrNW_004955490:4,545,457...4,662,862

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_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865

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_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909

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_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734

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_004955430:17,564,319...17,645,564
Ensembl chrNW_004955430:17,564,319...17,645,564

G

retinoic acid receptor beta

ClinVar Annotator: match by term: Congenital disorder of deglycosylation

PMID:24651605 PMID:28492532

NCBI chrNW_004955430:17,067,536...17,457,558
Ensembl chrNW_004955430:17,295,174...17,460,045

G

DNA topoisomerase II beta

ClinVar Annotator: match by term: Congenital disorder of deglycosylation

PMID:24651605 PMID:28492532

NCBI chrNW_004955430:17,457,603...17,523,115
Ensembl chrNW_004955430:17,457,603...17,507,012

Term paths to the root

Path 1
Term	Annotations
disease	16063
physical disorder	4597
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 +	260
congenital disorder of glycosylation type II +	227
developmental and epileptic encephalopathy 50	1
Path 2
Term	Annotations
disease	16063
Developmental Disease	15996
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	15949
genetic disease	15939
inherited metabolic disorder	5142
carbohydrate metabolic disorder	2526
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 +	260
congenital disorder of glycosylation type II +	227
developmental and epileptic encephalopathy 50	1

paths to the root