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RGD DISEASE ONTOLOGY - ANNOTATIONS

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
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Accession:DOID:0050570 term browser 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:
 
congenital disorder of glycosylation type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmm2 phosphomannomutase 2 ISS 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 MouseDO NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
congenital disorder of glycosylation Ia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A ClinVar PMID:28492532 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf2 insulin-like growth factor 2 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:19207313 RGD:12910858 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19207313 RGD:12910858 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Pmm2 phosphomannomutase 2 ISO 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
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A ClinVar PMID:28492532 NCBI chr10:7,077,488...7,080,806
Ensembl chr10:7,077,488...7,080,798
JBrowse link
congenital disorder of glycosylation Iaa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO 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
ClinVar
OMIM
PMID:25066056 PMID:25741868 PMID:28492532 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
JBrowse link
congenital disorder of glycosylation Ib term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpi mannose phosphate isomerase ISO 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
OMIM
ClinVar
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
JBrowse link
congenital disorder of glycosylation Ic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C
ClinVar Annotator: match by OMIM:603147
ClinVar Annotator: match by null
OMIM
ClinVar
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
JBrowse link
congenital disorder of glycosylation Icc term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc
OMIM
ClinVar
PMID:25135935 PMID:25741868 PMID:31036665 NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667
JBrowse link
congenital disorder of glycosylation Id term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D
ClinVar Annotator: match by OMIM:601110
OMIM
ClinVar
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
JBrowse link
congenital disorder of glycosylation Ie term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:608799
OMIM
ClinVar
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
JBrowse link
congenital disorder of glycosylation If term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F
ClinVar Annotator: match by OMIM:609180
OMIM
ClinVar
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
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F ClinVar NCBI chr10:56,260,514...56,263,503
Ensembl chr10:56,260,514...56,263,503
JBrowse link
congenital disorder of glycosylation Ig term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO 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
OMIM
ClinVar
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
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:25741868 NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621
JBrowse link
congenital disorder of glycosylation Ih term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H
ClinVar Annotator: match by OMIM:608104
OMIM
ClinVar
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
JBrowse link
congenital disorder of glycosylation Ii term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I
ClinVar Annotator: match by OMIM:607906
OMIM
ClinVar
PMID:12684507 PMID:25741868 PMID:28492532 NCBI chr 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025
JBrowse link
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:25741868 PMID:26833332 NCBI chr 9:37,774,876...37,778,839
Ensembl chr 9:37,775,311...37,779,967
JBrowse link
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:25741868 PMID:26833330 NCBI chr10:65,775,721...65,780,293
Ensembl chr10:65,775,715...65,780,349
JBrowse link
congenital disorder of glycosylation Ij term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,604,915...48,626,219
Ensembl chr 8:48,606,403...48,619,592
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,641,792...48,652,119
Ensembl chr 8:48,641,801...48,652,071
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,570,718...48,577,856
Ensembl chr 8:48,569,328...48,577,855
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J
ClinVar Annotator: match by OMIM:608093
OMIM
ClinVar
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
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,626,398...48,638,012
Ensembl chr 8:48,628,340...48,634,797
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867
JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,577,905...48,582,353
Ensembl chr 8:48,577,952...48,582,353
JBrowse link
congenital disorder of glycosylation Ik term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K
ClinVar Annotator: match by OMIM:608540
OMIM
ClinVar
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
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K ClinVar 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
JBrowse link
congenital disorder of glycosylation Il term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO 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
OMIM
ClinVar
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
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation
ClinVar 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
JBrowse link
congenital disorder of glycosylation Im term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dolk dolichol kinase ISO ClinVar Annotator: match by OMIM:610768
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M
ClinVar
OMIM
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
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M ClinVar NCBI chr 3:8,852,271...8,908,608
Ensembl chr 3:8,873,933...8,908,438
JBrowse link
congenital disorder of glycosylation In term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N
ClinVar Annotator: match by OMIM:612015
OMIM
ClinVar
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
JBrowse link
congenital disorder of glycosylation Ip term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P
ClinVar Annotator: match by OMIM:613661
OMIM
ClinVar
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
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P ClinVar PMID:28492532 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
congenital disorder of glycosylation Iq term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q
ClinVar Annotator: match by OMIM:612379
OMIM
ClinVar
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
JBrowse link
congenital disorder of glycosylation Ir term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir OMIM
ClinVar
PMID:22305527 PMID:25741868 PMID:28492532 NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
JBrowse link
congenital disorder of glycosylation It term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgm1 phosphoglucomutase 1 ISO 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
ClinVar
OMIM
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
JBrowse link
congenital disorder of glycosylation Iu term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar Annotator: match by OMIM:615042
OMIM
ClinVar
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
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,921,715...11,971,327
Ensembl chr 3:11,921,715...11,971,327
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
JBrowse link
congenital disorder of glycosylation Iw term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w OMIM
ClinVar
PMID:23842455 PMID:25741868 PMID:28424003 NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x
ClinVar Annotator: match by OMIM:615597
OMIM
ClinVar
PMID:23842455 PMID:25741868 PMID:28492532 NCBI chr 8:123,303,910...123,370,729
Ensembl chr 8:123,293,057...123,371,257
JBrowse link
congenital disorder of glycosylation Iy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y OMIM
ClinVar
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
JBrowse link
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by OMIM:612937
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O
ClinVar
OMIM
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
JBrowse link
developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO 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
OMIM
ClinVar
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
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar PMID:28492532 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  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 click to browse term
  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