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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
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Accession:DOID:5212 term browser 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
 primary_id: MESH:D018981
 xref: GARD:10307;   NCI:C84615;   OMIM:PS212065;   ORDO:137
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital disorder of glycosylation term browser
Symbol Object Name Qualifiers 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 ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 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 Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:28492532 NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 7:129,798,663...129,812,677
Ensembl chr 7:129,798,663...129,812,388
JBrowse link
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:28492532 NCBI chr11:83,985,484...83,991,706
Ensembl chr11:83,986,230...83,991,706
JBrowse link
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:118,415,680...118,470,634
Ensembl chr 5:118,418,799...118,469,376
JBrowse link
G Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:25741868 NCBI chr 1:162,342,061...162,362,139
Ensembl chr 1:162,342,051...162,362,141
JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:28492532 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 susceptibility ISO DNA:insertion: ;1031insC
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
RGD
ClinVar
PMID:11901181 PMID:28492532, PMID:11901181 RGD:1599432, RGD:1599432 NCBI chr 5:57,121,768...57,168,610
Ensembl chr 5:57,121,769...57,168,610
JBrowse link
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr10:102,167,594...102,180,569
Ensembl chr10:102,167,771...102,180,569
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701
JBrowse link
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:24033266 PMID:28492532 NCBI chr 2:142,197,566...142,235,054
Ensembl chr 2:142,196,754...142,235,066
JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:28492532 NCBI chr 1:191,889,332...191,948,977
Ensembl chr 1:191,857,556...191,948,977
JBrowse link
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:28492532 NCBI chr19:39,246,656...39,257,406
Ensembl chr19:39,246,625...39,257,451
JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 3:8,850,154...8,852,192
Ensembl chr 3:8,850,154...8,852,192
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:12872255 PMID:18414213 PMID:22304930 PMID:23806237 PMID:25741868 PMID:28492532 PMID:30117111 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:164,966,637...164,986,180
Ensembl chr 3:164,966,637...164,986,180
JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 6:50,925,987...50,943,546
Ensembl chr 6:50,928,397...50,943,488
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:26931382 NCBI chr10:10,530,302...10,540,428
Ensembl chr10:10,530,365...10,540,428
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 6:51,231,479...51,257,699
Ensembl chr 6:51,231,480...51,257,625
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:18414213 PMID:25741868 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation 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
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr10:56,261,636...56,267,213
Ensembl chr10:56,261,637...56,267,213
JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 8:62,324,176...62,332,080
Ensembl chr 8:62,324,092...62,332,115
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 3:8,852,271...8,908,608
Ensembl chr 3:8,873,933...8,908,438
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:25066056 PMID:25741868 PMID:28492532 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr19:39,244,242...39,246,636
Ensembl chr19:39,245,212...39,246,545
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11517108 PMID:11916319 PMID:15844218 PMID:16540464 PMID:17166182 PMID:19357119 PMID:20301289 PMID:21541725 PMID:24033266 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008, PMID:10066032, PMID:11058896 RGD:1599134, RGD:1599132 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:24033266 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr16:6,712,387...6,746,711
Ensembl chr16:6,712,389...6,746,696
JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:28492532 NCBI chr 3:153,398,373...153,445,633
Ensembl chr 3:153,398,130...153,445,632
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar PMID:24033266 NCBI chr 5:50,119,880...50,142,689
Ensembl chr 5:50,119,881...50,142,724
JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr 3:81,361,080...81,369,010
Ensembl chr 3:81,361,056...81,368,442
JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:20852264 PMID:22304929 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28940310 PMID:32581362 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
JBrowse link
G Ssr3 signal sequence receptor subunit 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:30945312 NCBI chr 2:156,010,997...156,023,853
Ensembl chr 2:156,011,002...156,014,527
JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome ClinVar NCBI chr14:34,503,037...34,528,262
Ensembl chr14:34,503,038...34,528,262
JBrowse link
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation
ClinVar PMID:23806237 PMID:25741868 PMID:28492532 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
JBrowse link
congenital disorder of glycosylation Ia term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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
congenital disorder of glycosylation type I term browser
Symbol Object Name Qualifiers 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 type II term browser
Symbol Object Name Qualifiers 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 Ii 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
congenital disorder of glycosylation type IIa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa ClinVar PMID:28492532 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa
ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II
ClinVar Annotator: match by OMIM:212066
OMIM
ClinVar
PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
JBrowse link
congenital disorder of glycosylation type IIb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mogs mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B
ClinVar Annotator: match by OMIM:606056
OMIM
ClinVar
PMID:10788335 PMID:24716661 PMID:25741868 PMID:26805780 PMID:28492532 PMID:29235540 PMID:32860008 NCBI chr 4:113,948,328...113,951,731
Ensembl chr 4:113,948,514...113,951,847
JBrowse link
congenital disorder of glycosylation type IIc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,020,346...80,030,365
Ensembl chr 3:80,021,440...80,030,363
JBrowse link
G Agbl2 AGBL carboxypeptidase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,622,791...79,647,402
Ensembl chr 3:79,613,171...79,646,698
JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,081,541...80,093,659
Ensembl chr 3:80,081,647...80,093,658
JBrowse link
G Arhgap1 Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,555,196...80,576,881
Ensembl chr 3:80,555,196...80,576,856
JBrowse link
G Atg13 autophagy related 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,580,549...80,614,554
Ensembl chr 3:80,581,247...80,601,410
JBrowse link
G C1qtnf4 C1q and TNF related 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,713,580...79,718,018
Ensembl chr 3:79,713,567...79,718,025
JBrowse link
G Celf1 CUGBP, Elav-like family member 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,768,900...79,844,548
Ensembl chr 3:79,823,945...79,842,082
JBrowse link
G Chrm4 cholinergic receptor, muscarinic 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,833,272...80,841,165
Ensembl chr 3:80,833,272...80,841,006
JBrowse link
G Ckap5 cytoskeleton associated protein 5 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,424,320...80,526,583
Ensembl chr 3:80,468,154...80,526,593
JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,892,433...80,933,283
Ensembl chr 3:80,892,435...80,933,283
JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,314,151...81,344,143
Ensembl chr 3:81,314,149...81,344,110
JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,844,002...80,886,487
Ensembl chr 3:80,844,005...80,875,817
JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fam180b family with sequence similarity 180 member B ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,718,116...79,721,044 JBrowse link
G Fnbp4 formin binding protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,570,610...79,610,122
Ensembl chr 3:79,570,625...79,610,454
JBrowse link
G Harbi1 harbinger transposase derived 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,614,886...80,624,213
Ensembl chr 3:80,614,937...80,624,205
JBrowse link
G Kbtbd4 kelch repeat and BTB domain containing 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,728,759...79,735,838
Ensembl chr 3:79,728,796...79,735,838
JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,276,020...81,285,457
Ensembl chr 3:81,276,028...81,282,157
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,960,301...80,003,023
Ensembl chr 3:79,960,301...80,003,032
JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,295,023...81,304,181
Ensembl chr 3:81,295,024...81,304,181
JBrowse link
G Mdk midkine ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,841,003...80,843,895
Ensembl chr 3:80,841,005...80,842,916
JBrowse link
G Mtch2 mitochondrial carrier 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,678,141...79,695,356
Ensembl chr 3:79,678,201...79,694,006
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
JBrowse link
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,496,239...79,562,163
Ensembl chr 3:79,498,179...79,551,128
JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,072,425...80,081,058
Ensembl chr 3:80,072,489...80,081,047
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,099,765...81,271,841
Ensembl chr 3:81,134,505...81,271,849
JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,876,938...79,882,319
Ensembl chr 3:79,876,938...79,882,319
JBrowse link
G Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,734,961...79,743,737
Ensembl chr 3:79,734,961...79,743,737
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G RGD1309540 similar to hypothetical protein MGC40841; similar to hypothetical protein MGC4707 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,092,589...80,349,249
Ensembl chr 3:80,095,042...80,349,145
JBrowse link
G RGD1563263 similar to RIKEN cDNA 1700029I15 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,294,275...81,295,027
Ensembl chr 3:81,294,275...81,295,027
JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO DNA:missense mutations:cds:p.R147C, p.T308R (human)
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C
ClinVar Annotator: match by OMIM:266265
ClinVar
OMIM
PMID:1279426 PMID:11213799 PMID:11326279 PMID:11326280 PMID:12116250 PMID:23806237 PMID:24033266 PMID:24403049 PMID:25326637 PMID:25741868 PMID:28492532, PMID:11326280 RGD:1599002 NCBI chr 3:81,361,080...81,369,010
Ensembl chr 3:81,361,056...81,368,442
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:79,918,127...79,937,708
Ensembl chr 3:79,918,969...79,938,301
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:80,549,102...80,555,186 JBrowse link
congenital disorder of glycosylation type IId term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11901181 PMID:25741868 PMID:30653653 PMID:32157688 NCBI chr 5:57,121,768...57,168,610
Ensembl chr 5:57,121,769...57,168,610
JBrowse link
congenital disorder of glycosylation type IIe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2E
ClinVar Annotator: match by OMIM:608779
OMIM
ClinVar
PMID:15107842 PMID:17356545 PMID:17395513 PMID:19577670 PMID:21811164 PMID:25741868 PMID:25741869 PMID:28492532 NCBI chr 1:191,889,332...191,948,977
Ensembl chr 1:191,857,556...191,948,977
JBrowse link
congenital disorder of glycosylation type IIf term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F OMIM
ClinVar
PMID:23873973 PMID:25552652 PMID:25741868 PMID:28492532 PMID:28856833 NCBI chr 5:50,119,880...50,142,689
Ensembl chr 5:50,119,881...50,142,724
JBrowse link
congenital disorder of glycosylation type IIg term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G
ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME
ClinVar Annotator: match by OMIM:611209
OMIM
ClinVar
PMID:9536098 PMID:16537452 PMID:17576681 PMID:19008299 PMID:23757202 PMID:23806237 PMID:25741868 PMID:27112773 PMID:28492532 NCBI chr10:102,167,594...102,180,569
Ensembl chr10:102,167,771...102,180,569
JBrowse link
G Fam104a family with sequence similarity 104, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G ClinVar PMID:25741868 PMID:28492532 NCBI chr10:102,179,478...102,200,488
Ensembl chr10:102,179,478...102,200,596
JBrowse link
congenital disorder of glycosylation type IIh term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H
ClinVar Annotator: match by OMIM:611182
OMIM
ClinVar
PMID:17220172 PMID:17331980 PMID:23806237 PMID:25741868 PMID:28492532 PMID:30690882 NCBI chr19:39,246,656...39,257,406
Ensembl chr19:39,246,625...39,257,451
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H ClinVar PMID:25741868 NCBI chr19:39,244,242...39,246,636
Ensembl chr19:39,245,212...39,246,545
JBrowse link
congenital disorder of glycosylation type IIi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i
ClinVar Annotator: match by OMIM:613612
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19690088 PMID:23228021 PMID:23430875 PMID:24033266 PMID:25331899 PMID:25741868 PMID:28492532 PMID:28708303 PMID:31572517 PMID:32174980 NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701
JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:50,925,987...50,943,546
Ensembl chr 6:50,928,397...50,943,488
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i ClinVar NCBI chr 6:51,231,479...51,257,699
Ensembl chr 6:51,231,480...51,257,625
JBrowse link
congenital disorder of glycosylation type IIj term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2J
ClinVar Annotator: match by OMIM:613489
OMIM
ClinVar
PMID:8074143 PMID:19494034 PMID:19651599 PMID:21185756 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30290151 PMID:31949312 PMID:32078278 NCBI chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828
JBrowse link
congenital disorder of glycosylation type IIk term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2k
ClinVar Annotator: match by OMIM:614727
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22683087 PMID:25741868 PMID:28492532 NCBI chr14:34,503,037...34,528,262
Ensembl chr14:34,503,038...34,528,262
JBrowse link
congenital disorder of glycosylation type IIl term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2L
ClinVar Annotator: match by OMIM:614576
OMIM
ClinVar
PMID:20605848 PMID:23430903 PMID:23606727 PMID:24033266 PMID:24667118 PMID:24667119 PMID:25558065 PMID:25741868 PMID:26260076 PMID:26937396 PMID:28492532 NCBI chr 2:142,197,566...142,235,054
Ensembl chr 2:142,196,754...142,235,066
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,318,215...15,322,601
Ensembl chr  X:15,419,028...15,423,414
Ensembl chr  X:15,419,028...15,423,414
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,225,645...15,240,458
Ensembl chr  X:15,225,645...15,240,329
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,636,567...15,651,332
Ensembl chr  X:15,636,563...15,651,332
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,523,929...15,553,702
Ensembl chr  X:15,523,929...15,553,720
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,396,185...15,417,486
Ensembl chr  X:15,295,473...15,316,671
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,506,724...15,520,712
Ensembl chr  X:15,506,724...15,520,712
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,669,191...15,676,051
Ensembl chr  X:15,669,191...15,676,050
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:16,121,332...16,121,411
Ensembl chr  X:16,121,322...16,121,413
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:16,109,870...16,109,948
Ensembl chr  X:16,109,870...16,109,948
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,324,263...15,327,705
Ensembl chr  X:15,425,078...15,428,518
Ensembl chr  X:15,425,078...15,428,518
JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,462,621...15,467,890
Ensembl chr  X:15,462,016...15,467,875
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,679,254...15,682,653
Ensembl chr  X:15,679,254...15,682,652
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,774,091...15,784,711 JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,618,324...15,620,992
Ensembl chr  X:15,618,991...15,620,841
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,682,652...15,693,473
Ensembl chr  X:15,682,653...15,693,473
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,098,880...15,102,344
Ensembl chr  X:15,098,904...15,102,340
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by OMIM:300896
OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28492532 PMID:28771251 PMID:29907092 PMID:30817854 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G Suv39h1 suppressor of variegation 3-9 homolog 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:146,532,002...146,533,538 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,064,733...15,088,579
Ensembl chr  X:15,064,594...15,088,589
JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,574,579...15,587,826
Ensembl chr  X:15,575,934...15,587,419
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,441,369...15,448,452
Ensembl chr  X:15,441,651...15,448,403
Ensembl chr  X:15,441,651...15,448,403
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,987,964...15,991,149
Ensembl chr  X:15,988,604...15,990,484
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,112,663...15,123,825
Ensembl chr  X:15,113,878...15,122,146
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
congenital disorder of glycosylation type IIn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: SLC39A8-CDG
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
OMIM
ClinVar
PMID:25741868 PMID:26637978 PMID:26637979 PMID:32313153 NCBI chr 2:241,028,851...241,092,584
Ensembl chr 2:241,029,693...241,092,582
JBrowse link
congenital disorder of glycosylation type IIo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
ClinVar Annotator: match by term: CCDC115-CDG
ClinVar
OMIM
PMID:25741868 PMID:26833332 NCBI chr 9:37,774,876...37,778,839
Ensembl chr 9:37,775,311...37,779,967
JBrowse link
congenital disorder of glycosylation type IIp term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
ClinVar Annotator: match by term: TMEM199-CDG
ClinVar
OMIM
PMID:19067230 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 type IIq term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq ClinVar
OMIM
PMID:24784932 PMID:25741868 PMID:28492532 NCBI chr19:57,286,955...57,322,853
Ensembl chr19:57,286,985...57,319,329
JBrowse link
Congenital Disorder of Glycosylation Type IIr term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr OMIM
ClinVar
PMID:29127204 NCBI chr  X:11,137,889...11,164,854
Ensembl chr  X:11,136,939...11,164,915
JBrowse link
Congenital Disorder of Glycosylation Type IIt term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit
ClinVar
OMIM
PMID:25741868 PMID:27508872 PMID:28097321 PMID:32293671 NCBI chr19:57,043,858...57,115,123
Ensembl chr19:57,047,830...57,115,132
JBrowse link
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 Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 OMIM
ClinVar
PMID:25741868 PMID:29304374 NCBI chr 6:100,305,957...100,537,208
Ensembl chr 6:100,337,226...100,537,224
JBrowse link
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 Fcsk fucose kinase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 OMIM
ClinVar
PMID:25741868 PMID:30503518 NCBI chr19:43,338,146...43,357,826
Ensembl chr19:43,338,166...43,357,822
JBrowse link
developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers 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
developmental and epileptic encephalopathy 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 50
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1z
OMIM
ClinVar
PMID:25678555 PMID:25741868 PMID:28007989 PMID:28492532 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome ClinVar
OMIM
PMID:25741868 PMID:25966638 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
immunodeficiency 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 47 OMIM
ClinVar
PMID:25741868 PMID:27231034 PMID:29192153 PMID:29396028 PMID:32058063 PMID:32216104 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
JBrowse link
NGLY1-deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 ISO
IMP
ClinVar Annotator: match by term: Congenital disorder of deglycosylation
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv
ClinVar Annotator: match by OMIM:615273
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:22581936 PMID:24088041 PMID:24651605 PMID:25220016 PMID:25356970 PMID:25741868 PMID:25900930 PMID:26350515 PMID:26633545 PMID:26795593 PMID:27388694 PMID:28330790 PMID:28492532 PMID:29419975 PMID:31957011, PMID:32259258 RGD:39457703 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    physical disorder 2958
      congenital disorder of glycosylation 181
        Congenital Disorder of Glycosylation with Defective Fucosylation + 2
        Congenital Disorder of Glycosylation, Type I/IIx 0
        Gillessen-Kaesbach-Nishimura Dysplasia 1
        NGLY1-deficiency 2
        Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 0
        congenital disorder of glycosylation type I + 74
        congenital disorder of glycosylation type II + 100
        developmental and epileptic encephalopathy 50 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            carbohydrate metabolic disorder 461
              congenital disorder of glycosylation 181
                Congenital Disorder of Glycosylation with Defective Fucosylation + 2
                Congenital Disorder of Glycosylation, Type I/IIx 0
                Gillessen-Kaesbach-Nishimura Dysplasia 1
                NGLY1-deficiency 2
                Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 0
                congenital disorder of glycosylation type I + 74
                congenital disorder of glycosylation type II + 100
                developmental and epileptic encephalopathy 50 1
paths to the root