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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;   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:9536098 PMID:14709599 PMID:14973778 PMID:14973782 PMID:17576681 More... NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:32681751 PMID:33734437 NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912
JBrowse link
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439
JBrowse link
G Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302
JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 susceptibility ISO DNA:insertion: ;1031insC
ClinVar Annotator: match by term: Congenital disorder of glycosylation
RGD
ClinVar
PMID:11901181 PMID:28492532 PMID:11901181 RGD:1599432, RGD:1599432 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
JBrowse link
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009
JBrowse link
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:24033266 PMID:28492532 NCBI chr 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190
JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 1:176,489,795...176,549,455
Ensembl chr 1:176,489,791...176,549,455
JBrowse link
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
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 Annotator: match by term: Congenital disorders of glycosylation ClinVar PMID:12872255 PMID:18414213 PMID:22304930 PMID:22742743 PMID:23806237 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536
JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:20679665 PMID:24157261 PMID:26931382 PMID:28492532 NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link
G Man2b2 mannosidase, alpha, class 2B, member 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:31775018 NCBI chr14:73,969,079...73,994,089
Ensembl chr14:73,969,003...74,004,281
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 Annotator: match by term: Congenital disorders of glycosylation ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
JBrowse link
G Mroh8 maestro heat-like repeat family member 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
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 chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation ClinVar
RGD
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... RGD:1599134, RGD:1599132 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:49,225,599...49,248,405
Ensembl chr 5:49,225,602...49,248,335
JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:3728255 PMID:25741868 PMID:32884905 PMID:33728255 PMID:33964207 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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:9536098 PMID:17576681 PMID:20852264 PMID:22304929 PMID:25326635 More... NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
G Ssr3 signal sequence receptor subunit 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:30945312 NCBI chr 2:149,605,005...149,625,069
Ensembl chr 2:149,605,005...149,625,132
JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717
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 Annotator: match by term: Congenital disorders of glycosylation ClinVar PMID:18455129 PMID:23806237 PMID:25626710 PMID:25741868 PMID:28492532 NCBI chr16:53,196,195...53,345,241
Ensembl chr16:53,196,195...53,344,781
JBrowse link
alacrima, achalasia, and impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated, migratory cell protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986
JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,768,124...75,771,122
Ensembl chr 9:75,766,770...75,771,084
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome OMIM
ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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 Annotator: match by term: Congenital disorder of glycosylation, type Ia ClinVar PMID:28492532 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf2 insulin-like growth factor 2 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:19207313 RGD:12910858 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19207313 RGD:12910858 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia | ClinVar Annotator: match by term: Phosphomannomutase 2 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9140401 PMID:9497260 PMID:9536098 PMID:9710598 PMID:9781039 More... NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia ClinVar PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
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 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA OMIM
ClinVar
PMID:16199547 PMID:25066056 PMID:25741868 PMID:28492532 PMID:29100083 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
JBrowse link
congenital disorder of glycosylation Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam219b family with sequence similarity 219, member B ISO ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome ClinVar NCBI chr 8:57,941,251...57,946,916
Ensembl chr 8:57,941,294...57,946,906
JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: CDG Ib | ClinVar Annotator: match by term: CDG gastrointestinal type | ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type 1B | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B | ClinVar Annotator: match by term: MPI deficiency | ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome OMIM
ClinVar
PMID:3080572 PMID:9525984 PMID:9585601 PMID:10484808 PMID:10980531 More... NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
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 OMIM
ClinVar
PMID:9536098 PMID:10359825 PMID:10852543 PMID:10914684 PMID:10924277 More... NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439
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 OMIM
ClinVar
PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
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: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV | ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D OMIM
ClinVar
PMID:8552211 PMID:10581255 PMID:15108280 PMID:15840742 PMID:16006436 More... NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912
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 OMIM
ClinVar
PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:16199547 More... NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536
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: CDG If | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F OMIM
ClinVar
PMID:11733556 PMID:11733564 PMID:25741868 PMID:28492532 PMID:28940310 NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F ClinVar NCBI chr10:54,373,602...54,376,591
Ensembl chr10:54,372,403...54,376,591
JBrowse link
congenital disorder of glycosylation Ig term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation OMIM
ClinVar
PMID:9536098 PMID:11983712 PMID:12093361 PMID:12217961 PMID:12736397 More... NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
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:23472171 PMID:25741868 PMID:32979048 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 7:119,774,187...119,822,031
Ensembl chr 7:119,774,188...119,822,031
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
JBrowse link
G Creld2 cysteine-rich with EGF-like domains 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543
JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494
JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228
JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737
JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395
JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664
JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
G Mov10l1 Mov10 like RISC complex RNA helicase 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587
JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330
JBrowse link
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805
JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015
JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075
JBrowse link
G Tubgcp6 tubulin, gamma complex associated protein 6 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
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: CDG Ih | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H OMIM
ClinVar
PMID:9536098 PMID:12480927 PMID:15235028 PMID:16199547 PMID:17576681 More... NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302
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: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II OMIM
ClinVar
PMID:12684507 PMID:25741868 PMID:28492532 PMID:33644825 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:24033266 PMID:25741868 PMID:26833332 PMID:29759592 NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946
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 chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108
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:22742743 PMID:28492532 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: CDG Ij | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J OMIM
ClinVar
PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
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 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:22742743 PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K OMIM
ClinVar
PMID:9536098 PMID:14709599 PMID:14973778 PMID:14973782 PMID:16199547 More... NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K ClinVar PMID:9536098 PMID:14709599 PMID:14973782 PMID:17576681 PMID:20679665 More... NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039
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 OMIM
ClinVar
PMID:9536098 PMID:15148656 PMID:15945070 PMID:16199547 PMID:17576681 More... NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18157129 PMID:19321599 More... NCBI chr12:31,949,863...31,979,777
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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 term: CDG Im | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY OMIM
ClinVar
PMID:17273964 PMID:22242004 PMID:23806237 PMID:23890587 PMID:24033266 More... NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY ClinVar NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
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: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313027 PMID:19701946 More... NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
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 Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P OMIM
ClinVar
PMID:10441329 PMID:16283883 PMID:20080937 PMID:22213132 PMID:25741868 More... NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P ClinVar PMID:10441329 PMID:16283883 PMID:28492532 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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: CDG Iq | ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20637498 PMID:20852264 PMID:22304929 More... NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
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 PMID:34462534 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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 term: CDG It | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19625727 PMID:22492991 More... NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
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: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,674,577...15,677,393
Ensembl chr 3:15,674,580...15,677,374
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,658,479...15,675,716
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19901254 PMID:23109149 More... NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,823,147...15,854,651
Ensembl chr 3:15,823,144...15,854,643
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,742,337...15,747,672
Ensembl chr 3:15,742,919...15,747,669
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,894,278...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,048,566...16,053,198
Ensembl chr 3:16,048,549...16,052,634
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,048,484...16,064,598
Ensembl chr 3:16,048,565...16,064,547
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 Iw, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant OMIM
ClinVar
PMID:23842455 PMID:25741868 PMID:28424003 PMID:28492532 PMID:34653363 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
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: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x OMIM
ClinVar
PMID:23842455 PMID:25741868 PMID:28492532 PMID:32253875 NCBI chr 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028
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:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y OMIM
ClinVar
PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
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 term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DPM3-RELATED OMIM
ClinVar
PMID:19576565 PMID:28492532 PMID:29246662 PMID:31469168 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
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 Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type I ClinVar PMID:11733564 PMID:28492532 NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
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 chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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 Annotator: match by term: Congenital disorder of glycosylation type II ClinVar PMID:12684507 PMID:25741868 PMID:28492532 PMID:33644825 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
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 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II ClinVar PMID:12684507 PMID:28492532 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa ClinVar PMID:28492532 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa OMIM
ClinVar
PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 More... NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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: CDG IIb | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb OMIM
ClinVar
PMID:10788335 PMID:24716661 PMID:25741868 PMID:26805780 PMID:28492532 More... NCBI chr 4:115,621,623...115,625,026
Ensembl chr 4:115,621,623...115,625,032
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 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
JBrowse link
G Agbl2 AGBL carboxypeptidase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,764,893...76,800,071
Ensembl chr 3:76,764,238...76,800,214
JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
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 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455
JBrowse link
G Arhgap1 Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,621,377...77,643,400
Ensembl chr 3:77,620,655...77,643,396
JBrowse link
G Atg13 autophagy related 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,647,069...77,681,028
Ensembl chr 3:77,645,790...77,681,043
JBrowse link
G C1qtnf4 C1q and TNF related 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,854,368...76,872,991
Ensembl chr 3:76,857,735...76,874,139
JBrowse link
G Celf1 CUGBP, Elav-like family member 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,924,591...76,999,429
Ensembl chr 3:76,924,613...76,999,426
JBrowse link
G Chrm4 cholinergic receptor, muscarinic 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159
JBrowse link
G Ckap5 cytoskeleton associated protein 5 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,491,195...77,593,300
Ensembl chr 3:77,491,276...77,593,264
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 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274
JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fam180b family with sequence similarity 180 member B ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532
G Fnbp4 formin binding protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,733,012...76,763,077
Ensembl chr 3:76,733,027...76,763,079
JBrowse link
G Harbi1 harbinger transposase derived 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,681,431...77,689,749
Ensembl chr 3:77,681,431...77,689,724
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 3:76,883,671...76,890,799
Ensembl chr 3:76,883,014...76,890,799
JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
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 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
JBrowse link
G Mdk midkine ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,901,156...77,903,997
Ensembl chr 3:77,901,158...77,903,130
JBrowse link
G Mtch2 mitochondrial carrier 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,830,549...76,850,189
Ensembl chr 3:76,830,413...76,850,189
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
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 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
JBrowse link
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565
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 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
JBrowse link
G Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:76,889,922...76,899,427
Ensembl chr 3:76,889,922...76,899,427
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
G RGD1563263 similar to RIKEN cDNA 1700029I15 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
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: CDG IIc | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
OMIM
RGD
PMID:1279426 PMID:11213799 PMID:11326279 PMID:11326280 PMID:12116250 More... RGD:1599002 NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:77,615,595...77,621,325 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: CDG IId | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D OMIM
ClinVar
PMID:11901181 PMID:25741868 PMID:28492532 PMID:30653653 PMID:32157688 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
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 Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation OMIM
ClinVar
PMID:9536098 PMID:15107842 PMID:16199547 PMID:17356545 PMID:17395513 More... NCBI chr 1:176,489,795...176,549,455
Ensembl chr 1:176,489,791...176,549,455
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 Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: SLC35A1-CDG ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: SLC35A1-CDG OMIM
ClinVar
PMID:15576474 PMID:23873973 PMID:24033266 PMID:25552652 PMID:25741868 More... NCBI chr 5:49,225,599...49,248,405
Ensembl chr 5:49,225,602...49,248,335
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: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G OMIM
ClinVar
PMID:9536098 PMID:16537452 PMID:17576681 PMID:19008299 PMID:23757202 More... NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292
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 chr10:98,707,404...98,728,486
Ensembl chr10:98,707,410...98,728,728
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: COG8-CDG OMIM
ClinVar
PMID:16199547 PMID:17220172 PMID:17331980 PMID:21811164 PMID:23806237 More... NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: COG8-CDG ClinVar PMID:25741868 NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
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: COG5-CDG OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19690088 PMID:23228021 More... NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009
JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: COG5-CDG ClinVar PMID:23228021 PMID:25741868 PMID:28492532 NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449
JBrowse link
G Gpr22 G protein-coupled receptor 22 ISO ClinVar Annotator: match by term: COG5-CDG ClinVar PMID:23228021 PMID:28492532 NCBI chr 6:48,309,619...48,317,864
Ensembl chr 6:48,310,505...48,317,486
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: COG5-CDG ClinVar NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787
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: COG4-CDG OMIM
ClinVar
PMID:8074143 PMID:16199547 PMID:19494034 PMID:19651599 PMID:21185756 More... NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
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: TMEM165-CDG OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22683087 PMID:25741868 PMID:28492532 NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717
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: CDG IIl | ClinVar Annotator: match by term: COG6-CGD | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2L OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20605848 PMID:23430903 PMID:23606727 More... NCBI chr 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190
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:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566
JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: SLC35A2-CDG OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:26350515 More... NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,434,216
Ensembl chr  X:14,421,109...14,433,982
JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:141,793,695...141,795,558 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275
JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,362,479...14,373,727
Ensembl chr  X:14,362,860...14,373,727
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202
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 OMIM
ClinVar
PMID:2809732 PMID:23806086 PMID:24088041 PMID:25687216 PMID:25741868 More... NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129
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: CCDC115-CDG OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26833332 PMID:29759592 NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946
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: TMEM199-CDG OMIM
ClinVar
PMID:19067230 PMID:25741868 PMID:26833330 NCBI chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108
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 OMIM
ClinVar
PMID:24784932 PMID:25741868 PMID:28492532 NCBI chr19:52,493,901...52,532,667
Ensembl chr19:52,493,932...52,526,874
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:25741868 PMID:29127204 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
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 OMIM
ClinVar
PMID:25741868 PMID:27508872 PMID:28097321 PMID:32293671 NCBI chr19:52,213,226...52,324,816
Ensembl chr19:52,213,351...52,324,813
JBrowse link
Congenital Disorder of Glycosylation Type IIv term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v ClinVar
OMIM
PMID:34143952 NCBI chr13:63,858,282...63,920,538
Ensembl chr13:63,858,716...63,920,523
JBrowse link
Congenital Disorder of Glycosylation Type IIw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw OMIM
ClinVar
PMID:3728255 PMID:25741868 PMID:32884905 PMID:33728255 PMID:33964207 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
Congenital Disorder of Glycosylation with Defective Fucosylation 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 ClinVar NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
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:24033266 PMID:25741868 PMID:28492532 PMID:29304374 NCBI chr 6:95,948,230...96,176,677
Ensembl chr 6:95,949,991...96,176,677
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:28492532 PMID:30503518 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
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: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More... NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
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: Developmental and epileptic encephalopathy, 50 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25678555 PMID:25741868 PMID:28007989 More... NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
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 Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA OMIM
ClinVar
PMID:25741868 PMID:25966638 PMID:26467025 PMID:28492532 PMID:31395617 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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:28492532 PMID:29192153 PMID:29396028 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
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 OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22581936 More... RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP compared to Wild type RGD PMID:32259258 RGD:39457703

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    physical disorder 4115
      congenital disorder of glycosylation 301
        Congenital Disorder of Glycosylation with Defective Fucosylation + 2
        Congenital Disorder of Glycosylation, Type I/IIx 0
        Gillessen-Kaesbach-Nishimura Dysplasia 1
        NGLY1-deficiency 3
        Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 0
        alacrima, achalasia, and impaired intellectual development syndrome 52
        congenital disorder of glycosylation type I + 136
        congenital disorder of glycosylation type II + 106
        developmental and epileptic encephalopathy 50 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            carbohydrate metabolic disorder 2561
              congenital disorder of glycosylation 301
                Congenital Disorder of Glycosylation with Defective Fucosylation + 2
                Congenital Disorder of Glycosylation, Type I/IIx 0
                Gillessen-Kaesbach-Nishimura Dysplasia 1
                NGLY1-deficiency 3
                Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 0
                alacrima, achalasia, and impaired intellectual development syndrome 52
                congenital disorder of glycosylation type I + 136
                congenital disorder of glycosylation type II + 106
                developmental and epileptic encephalopathy 50 1
paths to the root