congenital disorder of glycosylation type I - 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 type I	go back to main search page
Accession:	DOID:0050570	browse the term
Definition:	A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO)
Synonyms:	exact_synonym:	Congenital Disorder of Glycosylation Type 1
	primary_id:	RDO:9001280
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:

Rat (74) Mouse (75) Human (2333) Chinchilla (73) Bonobo (76) Dog (74) Squirrel (74) Pig (73) All
Genes (74)

congenital disorder of glycosylation type I

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphomannomutase 2

OMIM:212065 | OMIM:300884 | OMIM:300934 | OMIM:601110 | OMIM:602579 | OMIM:603147 | OMIM:607143 | OMIM:607906 | OMIM:608093 | OMIM:608104 | OMIM:608540 | OMIM:608776 | OMIM:608799 | OMIM:609180 | OMIM:610768 | OMIM:612015 | OMIM:612379 | OMIM:612937 | OMIM:613661 | OMIM:614507 | OMIM:614921 | OMIM:615042 | OMIM:615596 | OMIM:615597 | OMIM:616457

NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443

congenital disorder of glycosylation Ia

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

4-aminobutyrate aminotransferase

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

NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499

G

insulin-like growth factor 1

RGD

NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609

G

insulin-like growth factor 2

RGD

NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911

G

insulin-like growth factor binding protein, acid labile subunit

RGD

NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374

G

phosphomannomutase 2

ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:212065

OMIM
ClinVar
CTD

PMID:9140401 PMID:9497260 PMID:9710598 PMID:9781039 PMID:10066032 PMID:10386614 PMID:10527672 PMID:10571009 PMID:10571956 PMID:10602363 PMID:10801058 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11058896 PMID:11134235 PMID:11148191 PMID:11156536 PMID:11409861 PMID:11517108 PMID:11589167 PMID:11715002 PMID:11875054 PMID:11891694 PMID:11916319 PMID:12297897 PMID:12357336 PMID:12529711 PMID:12607543 PMID:12626389 PMID:12705494 PMID:12905014 PMID:13129599 PMID:15272470 PMID:15277997 PMID:15520415 PMID:15645285 PMID:15714316 PMID:15844218 PMID:16085795 PMID:16376131 PMID:16435227 PMID:16540464 PMID:16825284 PMID:16941129 PMID:17158594 PMID:17166182 PMID:17186415 PMID:17307006 PMID:17308246 PMID:17920054 PMID:18093857 PMID:18203160 PMID:18485644 PMID:18571450 PMID:18629883 PMID:18948042 PMID:19101518 PMID:19165618 PMID:19168813 PMID:19235233 PMID:19357119 PMID:19396570 PMID:19862844 PMID:20301289 PMID:20638314 PMID:21228398 PMID:21539312 PMID:21541725 PMID:21937992 PMID:21949237 PMID:22012410 PMID:22223895 PMID:22649348 PMID:22801829 PMID:22814378 PMID:23045520 PMID:23430838 PMID:23430905 PMID:23430927 PMID:23806237 PMID:23988505 PMID:24033266 PMID:24037084 PMID:24139637 PMID:24498599 PMID:24739649 PMID:25167861 PMID:25326635 PMID:25355454 PMID:25497157 PMID:25525159 PMID:25681648 PMID:25741868 PMID:26014514 PMID:26206375 PMID:26488408 PMID:26502900 PMID:26629787 PMID:26805780 PMID:26887550 PMID:27053713 PMID:27415628 PMID:28122681 PMID:28139241 PMID:28373276 PMID:28425223 PMID:28454995 PMID:28492532 PMID:28566178 PMID:28807751 PMID:28820871 PMID:28915903 PMID:28940310 PMID:29361989 PMID:29470411 PMID:30061496 PMID:30687093 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008

NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443

G

transmembrane protein 186

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

NCBI chr10:7,077,488...7,080,806
Ensembl chr10:7,077,488...7,080,798

congenital disorder of glycosylation Iaa

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NUS1 dehydrodolichyl diphosphate synthase subunit

ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iaa

PMID:25066056 PMID:25741868 PMID:28492532

NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010

congenital disorder of glycosylation Ib

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B
ClinVar Annotator: match by OMIM:602579
ClinVar Annotator: match by null

PMID:3080572 PMID:9525984 PMID:9585601 PMID:10484808 PMID:10980531 PMID:11350186 PMID:12414827 PMID:18928705 PMID:19862844 PMID:24033266 PMID:24421398 PMID:24508628 PMID:25741868 PMID:26206375 PMID:28492532 PMID:28928705 PMID:30545931

NCBI chr 8:62,324,176...62,332,080
Ensembl chr 8:62,324,092...62,332,115

congenital disorder of glycosylation Ic

term browser

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Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG6, alpha-1,3-glucosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C
ClinVar Annotator: match by OMIM:603147
ClinVar Annotator: match by null

PMID:10359825 PMID:10852543 PMID:10914684 PMID:10924277 PMID:11106564 PMID:11558905 PMID:12855228 PMID:14517965 PMID:15771971 PMID:16007612 PMID:16321363 PMID:18414213 PMID:19862844 PMID:20398363 PMID:20447155 PMID:21334936 PMID:21899441 PMID:23044053 PMID:23430515 PMID:25525159 PMID:25741868 PMID:26117549 PMID:26453362 PMID:27287710 PMID:27959697 PMID:28492532

NCBI chr 5:118,415,680...118,470,634
Ensembl chr 5:118,418,799...118,469,376

congenital disorder of glycosylation Icc

term browser

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Object Name

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
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc

PMID:25135935 PMID:25741868 PMID:31036665

NCBI chr X:77,023,423...77,061,603
Ensembl chr X:77,020,402...77,061,667

congenital disorder of glycosylation Id

term browser

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Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG3, alpha-1,3- mannosyltransferase

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D
ClinVar Annotator: match by OMIM:601110

PMID:8552211 PMID:10581255 PMID:15108280 PMID:15840742 PMID:16006436 PMID:17551933 PMID:23806237 PMID:25741868 PMID:28492532

NCBI chr11:83,985,484...83,991,706
Ensembl chr11:83,986,230...83,991,706

congenital disorder of glycosylation Ie

term browser

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Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:608799

PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:16641202 PMID:17576681 PMID:23856421 PMID:25741868 PMID:26729507 PMID:27481510 PMID:28492532

NCBI chr 3:164,966,637...164,986,180
Ensembl chr 3:164,966,637...164,986,180

congenital disorder of glycosylation If

term browser

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Object Name

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
ClinVar Annotator: match by OMIM:609180

PMID:11733556 PMID:11733564 PMID:25741868 PMID:28492532 PMID:28940310

NCBI chr10:56,261,636...56,267,213
Ensembl chr10:56,261,637...56,267,213

G

SRY-box transcription factor 15

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

NCBI chr10:56,260,514...56,263,503
Ensembl chr10:56,260,514...56,263,503

congenital disorder of glycosylation Ig

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG12, alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G
ClinVar Annotator: match by OMIM:607143

PMID:11983712 PMID:12093361 PMID:12217961 PMID:12736397 PMID:15639192 PMID:17506107 PMID:19862844 PMID:25019053 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31481313

NCBI chr 7:129,798,663...129,812,677
Ensembl chr 7:129,798,663...129,812,388

G

adaptor related protein complex 4 subunit epsilon 1

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

NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621

congenital disorder of glycosylation Ih

term browser

Symbol

Object Name

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 1H
ClinVar Annotator: match by OMIM:608104

PMID:12480927 PMID:15235028 PMID:19862844 PMID:25428507 PMID:25741868 PMID:26066342 PMID:26653770 PMID:28492532 PMID:28940310

NCBI chr 1:162,342,061...162,362,139
Ensembl chr 1:162,342,051...162,362,141

congenital disorder of glycosylation Ii

term browser

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Object Name

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 1I
ClinVar Annotator: match by OMIM:607906

PMID:12684507 PMID:25741868 PMID:28492532

NCBI chr 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025

G

coiled-coil domain containing 115

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

PMID:25741868 PMID:26833332

NCBI chr 9:37,774,876...37,778,839
Ensembl chr 9:37,775,311...37,779,967

G

transmembrane protein 199

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

PMID:25741868 PMID:26833330

NCBI chr10:65,775,721...65,780,293
Ensembl chr10:65,775,715...65,780,349

congenital disorder of glycosylation Ij

term browser

Symbol

Object Name

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

NCBI chr 8:48,604,915...48,626,219
Ensembl chr 8:48,606,403...48,619,592

G

C2CD2-like

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

NCBI chr 8:48,641,792...48,652,119
Ensembl chr 8:48,641,801...48,652,071

G

Cbl proto-oncogene

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

NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722

G

coiled-coil domain containing 153

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

NCBI chr 8:48,570,718...48,577,856
Ensembl chr 8:48,569,328...48,577,855

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J
ClinVar Annotator: match by OMIM:608093

PMID:9536098 PMID:12872255 PMID:17576681 PMID:18414213 PMID:22304930 PMID:22492991 PMID:22742743 PMID:22786653 PMID:23249953 PMID:23430862 PMID:23806237 PMID:24759841 PMID:25326635 PMID:25500013 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28662078 PMID:28712839 PMID:30117111 PMID:30388443 PMID:31153949

NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860

G

histone H4 transcription factor

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

NCBI chr 8:48,626,398...48,638,012
Ensembl chr 8:48,628,340...48,634,797

G

hydroxymethylbilane synthase

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

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748

G

NLR family member X1

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

NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867

G

PDZ domain containing 3

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

NCBI chr 8:48,577,905...48,582,353
Ensembl chr 8:48,577,952...48,582,353

congenital disorder of glycosylation Ik

term browser

Symbol

Object Name

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 1K
ClinVar Annotator: match by OMIM:608540

PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:23757202 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26453362 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332

NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138

G

eukaryotic elongation factor 2 lysine methyltransferase

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

PMID:14709599 PMID:22966035 PMID:25741868 PMID:26931382 PMID:28492532

NCBI chr10:10,530,302...10,540,428
Ensembl chr10:10,530,365...10,540,428

congenital disorder of glycosylation Il

term browser

Symbol

Object Name

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: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
ClinVar Annotator: match by OMIM:608776

PMID:9536098 PMID:15148656 PMID:15945070 PMID:17576681 PMID:25741868 PMID:26453364 PMID:26467025 PMID:28492532 PMID:31395617

NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478

G

ATPase H+ transporting V0 subunit a2

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

PMID:9536098 PMID:17576681 PMID:18157129 PMID:19321599 PMID:23963297 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596

congenital disorder of glycosylation Im

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dolichol kinase

ClinVar Annotator: match by OMIM:610768
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M

PMID:17273964 PMID:22242004 PMID:23806237 PMID:23890587 PMID:24033266 PMID:25741868 PMID:25819062 PMID:27212206 PMID:28074886 PMID:28492532 PMID:28816422

NCBI chr 3:8,850,154...8,852,192
Ensembl chr 3:8,850,154...8,852,192

G

nucleoporin 188

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

NCBI chr 3:8,852,271...8,908,608
Ensembl chr 3:8,873,933...8,908,438

congenital disorder of glycosylation In

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RFT1 homolog

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N
ClinVar Annotator: match by OMIM:612015

PMID:9536098 PMID:17576681 PMID:18313027 PMID:19701946 PMID:19856127 PMID:23111317 PMID:25741868 PMID:28492532 PMID:28940310

NCBI chr16:6,712,387...6,746,711
Ensembl chr16:6,712,389...6,746,696

congenital disorder of glycosylation Ip

term browser

Symbol

Object Name

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 1P
ClinVar Annotator: match by OMIM:613661

PMID:20080937 PMID:22213132 PMID:25741868 PMID:28492532 PMID:30676690

NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816

G

ATPase copper transporting beta

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

NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286

congenital disorder of glycosylation Iq

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

steroid 5 alpha-reductase 3

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q
ClinVar Annotator: match by OMIM:612379

PMID:20637498 PMID:20852264 PMID:22304929 PMID:25326635 PMID:25741868 PMID:26219881 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31319225 PMID:32581362

NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356

congenital disorder of glycosylation Ir

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

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

PMID:22305527 PMID:25741868 PMID:28492532

NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035

congenital disorder of glycosylation It

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoglucomutase 1

ClinVar Annotator: match by OMIM:614921
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t
ClinVar Annotator: match by term: GSD XIV
ClinVar Annotator: match by term: CDG It
ClinVar Annotator: match by term: Glycogen storage disease XIV

PMID:19625727 PMID:22492991 PMID:24499211 PMID:25288802 PMID:25741868 PMID:26768186 PMID:27206562 PMID:28492532

NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055

congenital disorder of glycosylation Iu

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate kinase 1

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

NCBI chr 3:11,652,143...11,659,135

G

bublin coiled coil protein

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

NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732

G

cyclin-dependent kinase 9

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

NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113

G

cilia and flagella associated protein 157

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

NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549

G

CDKN1A interacting zinc finger protein 1

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

NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180

G

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar Annotator: match by OMIM:615042

PMID:18414213 PMID:19901254 PMID:23109149 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528

G

endoglin

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

NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485

G

family with sequence similarity 102, member A

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

NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303

G

folylpolyglutamate synthase

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

NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327

G

lipocalin 2

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

NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546

G

leucine rich repeat and sterile alpha motif containing 1

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

NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570

G

nuclear apoptosis inducing factor 1

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

NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744

G

niban apoptosis regulator 2

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

NCBI chr 3:11,921,715...11,971,327
Ensembl chr 3:11,921,715...11,971,327

G

phosphatidylinositol-4-phosphate 5-kinase-like 1

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

NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410

G

prostaglandin E synthase 2

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

NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402

G

peptidyl-tRNA hydrolase 1 homolog

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

NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640

G

SH2 domain containing 3C

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

NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593

G

solute carrier family 25 member 25

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

NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529

G

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

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

NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593

G

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

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

NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466

G

syntaxin binding protein 1

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

NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417

G

torsin family 2, member A

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

NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693

G

tetratricopeptide repeat domain 16

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

NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901

congenital disorder of glycosylation Iw

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STT3 oligosaccharyltransferase complex catalytic subunit A

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

PMID:23842455 PMID:25741868 PMID:28424003

NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882

congenital disorder of glycosylation Ix

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STT3 oligosaccharyltransferase complex catalytic subunit B

ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x
ClinVar Annotator: match by OMIM:615597

PMID:23842455 PMID:25741868 PMID:28492532

NCBI chr 8:123,303,910...123,370,729
Ensembl chr 8:123,293,057...123,371,257

congenital disorder of glycosylation Iy

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

NCBI chr X:156,999,803...157,008,735
Ensembl chr X:156,999,826...157,008,733

G

plexin B3

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

NCBI chr X:157,015,297...157,030,147
Ensembl chr X:157,015,305...157,028,434

G

SRSF protein kinase 3

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

NCBI chr X:157,008,773...157,014,342
Ensembl chr X:157,008,824...157,013,443

G

signal sequence receptor subunit 4

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

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

NCBI chr X:156,995,763...156,999,702
Ensembl chr X:156,995,779...156,999,650

Congenital Disorder of Glycosylation Type 1O

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dolichyl-phosphate mannosyltransferase subunit 3, regulatory

ClinVar Annotator: match by OMIM:612937
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O

PMID:19576565 PMID:28492532 PMID:28803818 PMID:29246662 PMID:31266720 PMID:31469168

NCBI chr 2:188,583,664...188,584,179
Ensembl chr 2:188,583,664...188,584,179

developmental and epileptic encephalopathy 36

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG13, UDP-N-acetylglucosaminyltransferase subunit

ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar Annotator: match by term: CDG Is
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is
ClinVar Annotator: match by OMIM:300884

PMID:9536098 PMID:17576681 PMID:22492991 PMID:23033978 PMID:23934111 PMID:24476948 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26467025 PMID:26482601 PMID:28492532 PMID:28940310 PMID:32238909 PMID:32681751

NCBI chr X:115,561,329...115,589,792
Ensembl chr X:115,561,332...115,619,505

G

doublecortin

ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36

NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299

Term paths to the root

Path 1
Term	Annotations
disease	16909
physical disorder	2917
congenital disorder of glycosylation	181
congenital disorder of glycosylation type I	74
Congenital Disorder of Glycosylation Type 1O	1
congenital disorder of glycosylation Ia	7
congenital disorder of glycosylation Iaa	1
congenital disorder of glycosylation Ib	1
congenital disorder of glycosylation Ic	1
congenital disorder of glycosylation Icc	1
congenital disorder of glycosylation Id	1
congenital disorder of glycosylation Ie	1
congenital disorder of glycosylation If	2
congenital disorder of glycosylation Ig	2
congenital disorder of glycosylation Ih	1
congenital disorder of glycosylation Ii	3
congenital disorder of glycosylation Ij	9
congenital disorder of glycosylation Ik	2
congenital disorder of glycosylation Il	2
congenital disorder of glycosylation Im	2
congenital disorder of glycosylation In	1
congenital disorder of glycosylation Ip	2
congenital disorder of glycosylation Iq	1
congenital disorder of glycosylation Ir	1
congenital disorder of glycosylation It	1
congenital disorder of glycosylation Iu	23
congenital disorder of glycosylation Iw	1
congenital disorder of glycosylation Ix	1
congenital disorder of glycosylation Iy	4
developmental and epileptic encephalopathy 36	2
Path 2
Term	Annotations
disease	16909
Developmental Disease	10557
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	8872
genetic disease	8389
inherited metabolic disorder	2355
carbohydrate metabolic disorder	459
congenital disorder of glycosylation	181
congenital disorder of glycosylation type I	74
Congenital Disorder of Glycosylation Type 1O	1
congenital disorder of glycosylation Ia	7
congenital disorder of glycosylation Iaa	1
congenital disorder of glycosylation Ib	1
congenital disorder of glycosylation Ic	1
congenital disorder of glycosylation Icc	1
congenital disorder of glycosylation Id	1
congenital disorder of glycosylation Ie	1
congenital disorder of glycosylation If	2
congenital disorder of glycosylation Ig	2
congenital disorder of glycosylation Ih	1
congenital disorder of glycosylation Ii	3
congenital disorder of glycosylation Ij	9
congenital disorder of glycosylation Ik	2
congenital disorder of glycosylation Il	2
congenital disorder of glycosylation Im	2
congenital disorder of glycosylation In	1
congenital disorder of glycosylation Ip	2
congenital disorder of glycosylation Iq	1
congenital disorder of glycosylation Ir	1
congenital disorder of glycosylation It	1
congenital disorder of glycosylation Iu	23
congenital disorder of glycosylation Iw	1
congenital disorder of glycosylation Ix	1
congenital disorder of glycosylation Iy	4
developmental and epileptic encephalopathy 36	2

paths to the root