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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation
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Accession:DOID:5212 term browser browse the term
Definition:A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
Synonyms:exact_synonym: Carbohydrate Deficient Glycoprotein Syndrome;   Carbohydrate-Deficient Glycoprotein Syndromes;   congenital disorders of glycosylation
 primary_id: MESH:D018981;   RDO:0001028
 xref: GARD:10307;   NCI:C84615;   OMIM:PS212065;   ORDO:137
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link 10 10,539,930 10,550,178 RGD:8554872
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Alg12 ALG12, alpha-1,6-mannosyltransferase JBrowse link 7 129,798,663 129,812,677 RGD:8554872
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase JBrowse link 5 63,187,466 63,192,025 RGD:8554872
G Alg3 ALG3, alpha-1,3- mannosyltransferase JBrowse link 11 83,985,484 83,991,706 RGD:8554872
G Alg6 ALG6, alpha-1,3-glucosyltransferase JBrowse link 5 118,415,680 118,470,634 RGD:8554872
G Alg8 ALG8, alpha-1,3-glucosyltransferase JBrowse link 1 162,342,061 162,362,139 RGD:8554872
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G B4galt1 beta-1,4-galactosyltransferase 1 JBrowse link 5 57,121,768 57,168,610 RGD:1599432
RGD:8554872
G Cog1 component of oligomeric golgi complex 1 JBrowse link 10 102,167,594 102,180,569 RGD:8554872
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:8554872
G Cog5 component of oligomeric golgi complex 5 JBrowse link 6 50,953,868 51,230,860 RGD:8554872
G Cog6 component of oligomeric golgi complex 6 JBrowse link 2 142,197,566 142,235,054 RGD:8554872
G Cog7 component of oligomeric golgi complex 7 JBrowse link 1 191,889,332 191,948,977 RGD:8554872
G Cog8 component of oligomeric golgi complex 8 JBrowse link 19 39,246,656 39,257,406 RGD:8554872
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit JBrowse link 5 156,668,924 156,676,036 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dolk dolichol kinase JBrowse link 3 8,850,154 8,852,192 RGD:8554872
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 8 48,657,779 48,664,531 RGD:8554872
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic JBrowse link 3 164,966,637 164,986,180 RGD:8554872
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory JBrowse link 3 11,587,941 11,590,528 RGD:8554872
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory JBrowse link 2 188,583,664 188,584,179 RGD:8554872
G Dus4l dihydrouridine synthase 4-like JBrowse link 6 50,925,987 50,943,546 RGD:8554872
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase JBrowse link 10 10,530,302 10,540,428 RGD:8554872
G Fam104a family with sequence similarity 104, member A JBrowse link 10 102,179,478 102,200,488 RGD:8554872
G Hbp1 HMG-box transcription factor 1 JBrowse link 6 51,231,479 51,257,699 RGD:8554872
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:8554872
G Magt1 magnesium transporter 1 JBrowse link X 77,023,423 77,061,603 RGD:8554872
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
G Mogs mannosyl-oligosaccharide glucosidase JBrowse link 4 113,948,328 113,951,731 RGD:8554872
G Mpdu1 mannose-P-dolichol utilization defect 1 JBrowse link 10 56,261,636 56,267,213 RGD:8554872
G Mpi mannose phosphate isomerase JBrowse link 8 62,324,176 62,332,080 RGD:8554872
G Nup188 nucleoporin 188 JBrowse link 3 8,852,271 8,908,608 RGD:8554872
G Pdf peptide deformylase (mitochondrial) JBrowse link 19 39,244,242 39,246,636 RGD:8554872
G Pgm1 phosphoglucomutase 1 JBrowse link 5 118,743,632 118,803,055 RGD:8554872
G Pink1 PTEN induced kinase 1 JBrowse link 5 156,677,146 156,689,258 RGD:8554872
G Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 RGD:1599134
RGD:8554872
RGD:1599132
G Rars2 arginyl-tRNA synthetase 2, mitochondrial JBrowse link 5 50,075,510 50,127,625 RGD:8554872
G Rft1 RFT1 homolog JBrowse link 16 6,712,387 6,746,711 RGD:8554872
G Rpn2 ribophorin II JBrowse link 3 153,398,373 153,445,633 RGD:8554872
G Slc35a1 solute carrier family 35 member A1 JBrowse link 5 50,119,880 50,142,689 RGD:8554872
G Slc35c1 solute carrier family 35 member C1 JBrowse link 3 81,361,080 81,369,010 RGD:8554872
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:8554872
G Tmem165 transmembrane protein 165 JBrowse link 14 34,503,037 34,528,262 RGD:8554872
G Tusc3 tumor suppressor candidate 3 JBrowse link 16 56,248,125 56,396,491 RGD:8554872
congenital disorder of glycosylation Ia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12910858
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:12910858
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910858
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12910858
G Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 RGD:7240710
RGD:8554872
RGD:11554173
G Tmem186 transmembrane protein 186 JBrowse link 10 7,077,488 7,080,806 RGD:8554872
congenital disorder of glycosylation Iaa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
RGD:7240710
congenital disorder of glycosylation Ib term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpi mannose phosphate isomerase JBrowse link 8 62,324,176 62,332,080 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Ic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg6 ALG6, alpha-1,3-glucosyltransferase JBrowse link 5 118,415,680 118,470,634 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Id term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg3 ALG3, alpha-1,3- mannosyltransferase JBrowse link 11 83,985,484 83,991,706 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Ie term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic JBrowse link 3 164,966,637 164,986,180 RGD:7240710
RGD:8554872
congenital disorder of glycosylation If term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpdu1 mannose-P-dolichol utilization defect 1 JBrowse link 10 56,261,636 56,267,213 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Ig term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg12 ALG12, alpha-1,6-mannosyltransferase JBrowse link 7 129,798,663 129,812,677 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Ih term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg8 ALG8, alpha-1,3-glucosyltransferase JBrowse link 1 162,342,061 162,362,139 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Ii term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase JBrowse link 5 63,187,466 63,192,025 RGD:7240710
RGD:8554872
G Ccdc115 coiled-coil domain containing 115 JBrowse link 9 37,774,876 37,778,839 RGD:8554872
G Tmem199 transmembrane protein 199 JBrowse link 10 65,775,721 65,780,293 RGD:8554872
congenital disorder of glycosylation Ij term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 8 48,657,779 48,664,531 RGD:7240710
RGD:8554872
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:8554872
congenital disorder of glycosylation Ik term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link 10 10,539,930 10,550,178 RGD:7240710
RGD:8554872
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase JBrowse link 10 10,530,302 10,540,428 RGD:8554872
congenital disorder of glycosylation Il term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:7240710
RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
congenital disorder of glycosylation Im term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dolk dolichol kinase JBrowse link 3 8,850,154 8,852,192 RGD:8554872
RGD:7240710
congenital disorder of glycosylation In term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rft1 RFT1 homolog JBrowse link 16 6,712,387 6,746,711 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Ip term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:7240710
RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
congenital disorder of glycosylation Iq term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Ir term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit JBrowse link 5 156,668,924 156,676,036 RGD:7240710
RGD:8554872
congenital disorder of glycosylation It term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgm1 phosphoglucomutase 1 JBrowse link 5 118,743,632 118,803,055 RGD:8554872
RGD:7240710
congenital disorder of glycosylation Iu term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak1 adenylate kinase 1 JBrowse link 3 11,652,143 11,659,135 RGD:8554872
G Cdk9 cyclin-dependent kinase 9 JBrowse link 3 11,742,269 11,747,117 RGD:8554872
G Cfap157 cilia and flagella associated protein 157 JBrowse link 3 11,813,575 11,820,549 RGD:8554872
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory JBrowse link 3 11,587,941 11,590,528 RGD:7240710
RGD:8554872
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
G Fam102a family with sequence similarity 102, member A JBrowse link 3 11,554,084 11,586,315 RGD:8554872
G Fpgs folylpolyglutamate synthase JBrowse link 3 11,717,667 11,729,694 RGD:8554872
G Lcn2 lipocalin 2 JBrowse link 3 11,414,189 11,417,534 RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
G Naif1 nuclear apoptosis inducing factor 1 JBrowse link 3 11,476,330 11,482,629 RGD:8554872
G Niban2 niban apoptosis regulator 2 JBrowse link 3 11,921,715 11,971,327 RGD:8554872
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 JBrowse link 3 11,592,156 11,597,513 RGD:8554872
G Ptges2 prostaglandin E synthase 2 JBrowse link 3 11,424,195 11,431,379 RGD:8554872
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog JBrowse link 3 11,811,303 11,817,007 RGD:8554872
G RGD1561113 similar to Hypothetical UPF0184 protein C9orf16 homolog JBrowse link 3 11,408,076 11,410,907 RGD:8554872
G Sh2d3c SH2 domain containing 3C JBrowse link 3 11,756,427 11,793,547 RGD:8554872
G Slc25a25 solute carrier family 25 member 25 JBrowse link 3 11,442,396 11,476,186 RGD:8554872
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 JBrowse link 3 11,607,103 11,619,595 RGD:8554872
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 JBrowse link 3 11,620,050 11,641,460 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Tor2a torsin family 2, member A JBrowse link 3 11,794,731 11,800,261 RGD:8554872
G Ttc16 tetratricopeptide repeat domain 16 JBrowse link 3 11,799,788 11,811,600 RGD:8554872
congenital disorder of glycosylation Iw term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A JBrowse link 8 39,204,218 39,243,751 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Ix term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B JBrowse link 8 123,303,910 123,370,729 RGD:7240710
RGD:8554872
congenital disorder of glycosylation Iy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ssr4 signal sequence receptor subunit 4 JBrowse link X 156,995,763 156,999,702 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1CC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Magt1 magnesium transporter 1 JBrowse link X 77,023,423 77,061,603 RGD:7240710
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory JBrowse link 2 188,583,664 188,584,179 RGD:8554872
RGD:7240710
congenital disorder of glycosylation type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 RGD:13592920
congenital disorder of glycosylation type IIa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mogs mannosyl-oligosaccharide glucosidase JBrowse link 4 113,948,328 113,951,731 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIc term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35c1 solute carrier family 35 member C1 JBrowse link 3 81,361,080 81,369,010 RGD:1599002
RGD:8554872
RGD:7240710
congenital disorder of glycosylation type IId term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt1 beta-1,4-galactosyltransferase 1 JBrowse link 5 57,121,768 57,168,610 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIe term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog7 component of oligomeric golgi complex 7 JBrowse link 1 191,889,332 191,948,977 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIf term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35a1 solute carrier family 35 member A1 JBrowse link 5 50,119,880 50,142,689 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIg term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog1 component of oligomeric golgi complex 1 JBrowse link 10 102,167,594 102,180,569 RGD:7240710
RGD:8554872
G Fam104a family with sequence similarity 104, member A JBrowse link 10 102,179,478 102,200,488 RGD:8554872
congenital disorder of glycosylation type IIh term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog8 component of oligomeric golgi complex 8 JBrowse link 19 39,246,656 39,257,406 RGD:7240710
RGD:8554872
G Nip7 nucleolar pre-rRNA processing protein NIP7 JBrowse link 19 39,257,586 39,259,728 RGD:8554872
congenital disorder of glycosylation type IIi term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog5 component of oligomeric golgi complex 5 JBrowse link 6 50,953,868 51,230,860 RGD:7240710
RGD:8554872
G Dus4l dihydrouridine synthase 4-like JBrowse link 6 50,925,987 50,943,546 RGD:8554872
congenital disorder of glycosylation type IIj term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIk term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem165 transmembrane protein 165 JBrowse link 14 34,503,037 34,528,262 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIl term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog6 component of oligomeric golgi complex 6 JBrowse link 2 142,197,566 142,235,054 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc120 coiled-coil domain containing 120 JBrowse link X 15,610,230 15,616,727 RGD:8554872
G Eras ES cell expressed Ras JBrowse link X 15,318,215 15,322,601 RGD:8554872
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:8554872
G Glod5 glyoxalase domain containing 5 JBrowse link X 15,225,645 15,240,458 RGD:8554872
G Gripap1 GRIP1 associated protein 1 JBrowse link X 15,523,929 15,553,702 RGD:8554872
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:8554872
G Kcnd1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 15,506,724 15,520,712 RGD:8554872
G Otud5 OTU deubiquitinase 5 JBrowse link X 15,471,212 15,504,372 RGD:8554872
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor JBrowse link X 15,324,263 15,327,705 RGD:8554872
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase JBrowse link X 15,462,621 15,467,890 RGD:8554872
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:8554872
G Praf2 PRA1 domain family, member 2 JBrowse link X 15,618,324 15,620,992 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:7240710
RGD:8554872
G Suv39h1 suppressor of variegation 3-9 homolog 1 JBrowse link X 146,532,002 146,533,538 RGD:8554872
G Tfe3 transcription factor binding to IGHM enhancer 3 JBrowse link X 15,574,579 15,587,826 RGD:8554872
G Timm17b translocase of inner mitochondrial membrane 17b JBrowse link X 15,441,369 15,448,452 RGD:8554872
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
congenital disorder of glycosylation type IIn term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a8 solute carrier family 39 member 8 JBrowse link 2 241,028,851 241,092,584 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc115 coiled-coil domain containing 115 JBrowse link 9 37,774,876 37,778,839 RGD:8554872
RGD:7240710
congenital disorder of glycosylation type IIp term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem199 transmembrane protein 199 JBrowse link 10 65,775,721 65,780,293 RGD:8554872
RGD:7240710
congenital disorder of glycosylation type IIq term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog2 component of oligomeric golgi complex 2 JBrowse link 19 57,286,955 57,322,853 RGD:8554872
RGD:7240710
Congenital Disorder of Glycosylation with Defective Fucosylation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fut8 fucosyltransferase 8 JBrowse link 6 100,305,957 100,537,208 RGD:8554872
Congenital Disorder of Glycosylation with Defective Fucosylation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fut8 fucosyltransferase 8 JBrowse link 6 100,305,957 100,537,208 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation with Defective Fucosylation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fcsk fucose kinase JBrowse link 19 43,338,146 43,357,826 RGD:7240710
RGD:8554872
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
RGD:7240710
NGLY1-deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ngly1 N-glycanase 1 JBrowse link 15 10,405,453 10,455,973 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Nutritional and Metabolic Diseases 4375
      disease of metabolism 4375
        inherited metabolic disorder 1862
          carbohydrate metabolic disorder 320
            congenital disorder of glycosylation 105
              Congenital Disorder of Glycosylation with Defective Fucosylation + 2
              Congenital Disorder of Glycosylation, Type I/IIx 0
              Gillessen-Kaesbach-Nishimura Dysplasia 1
              NGLY1-deficiency 1
              Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 0
              congenital disorder of glycosylation type I + 59
              congenital disorder of glycosylation type II + 38
Path 2
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          inherited metabolic disorder 1862
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                Congenital Disorder of Glycosylation with Defective Fucosylation + 2
                Congenital Disorder of Glycosylation, Type I/IIx 0
                Gillessen-Kaesbach-Nishimura Dysplasia 1
                NGLY1-deficiency 1
                Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 0
                congenital disorder of glycosylation type I + 59
                congenital disorder of glycosylation type II + 38
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.