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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type II
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Accession:DOID:0050571 term browser browse the term
Definition:A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO)
Synonyms:exact_synonym: congenital disorder of glycosylation type 2
 xref: OMIM:PS212066
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type 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:8554872
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 Cry2 cryptochrome circadian regulator 2 JBrowse link 3 81,314,151 81,344,143 RGD:8554872
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 JBrowse link 3 81,295,023 81,304,181 RGD:8554872
G Pex16 peroxisomal biogenesis factor 16 JBrowse link 3 81,283,137 81,292,575 RGD:8554872
G RGD1563263 similar to RIKEN cDNA 1700029I15 JBrowse link 3 81,294,275 81,295,027 RGD:8554872
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
G Pdf peptide deformylase (mitochondrial) JBrowse link 19 39,244,242 39,246,636 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
G Hbp1 HMG-box transcription factor 1 JBrowse link 6 51,231,479 51,257,699 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 Type IIr term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type IIt term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 JBrowse link 19 57,043,858 57,115,123 RGD:8554872
RGD:7240710
Immunodeficiency 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap1 ATPase H+ transporting accessory protein 1 JBrowse link X 156,407,973 156,415,053 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Nutritional and Metabolic Diseases 4644
      disease of metabolism 4644
        inherited metabolic disorder 2179
          carbohydrate metabolic disorder 385
            congenital disorder of glycosylation 120
              congenital disorder of glycosylation type II 48
                Congenital Disorder of Glycosylation Type IIr 1
                Congenital Disorder of Glycosylation Type IIt 1
                Immunodeficiency 47 1
                congenital disorder of glycosylation type IIa 2
                congenital disorder of glycosylation type IIb 1
                congenital disorder of glycosylation type IIc 5
                congenital disorder of glycosylation type IId 1
                congenital disorder of glycosylation type IIe 1
                congenital disorder of glycosylation type IIf 1
                congenital disorder of glycosylation type IIg 2
                congenital disorder of glycosylation type IIh 3
                congenital disorder of glycosylation type IIi 3
                congenital disorder of glycosylation type IIj 1
                congenital disorder of glycosylation type IIk 1
                congenital disorder of glycosylation type IIl 1
                congenital disorder of glycosylation type IIm 18
                congenital disorder of glycosylation type IIn 1
                congenital disorder of glycosylation type IIo 1
                congenital disorder of glycosylation type IIp 1
                congenital disorder of glycosylation type IIq 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          inherited metabolic disorder 2179
            carbohydrate metabolic disorder 385
              congenital disorder of glycosylation 120
                congenital disorder of glycosylation type II 48
                  Congenital Disorder of Glycosylation Type IIr 1
                  Congenital Disorder of Glycosylation Type IIt 1
                  Immunodeficiency 47 1
                  congenital disorder of glycosylation type IIa 2
                  congenital disorder of glycosylation type IIb 1
                  congenital disorder of glycosylation type IIc 5
                  congenital disorder of glycosylation type IId 1
                  congenital disorder of glycosylation type IIe 1
                  congenital disorder of glycosylation type IIf 1
                  congenital disorder of glycosylation type IIg 2
                  congenital disorder of glycosylation type IIh 3
                  congenital disorder of glycosylation type IIi 3
                  congenital disorder of glycosylation type IIj 1
                  congenital disorder of glycosylation type IIk 1
                  congenital disorder of glycosylation type IIl 1
                  congenital disorder of glycosylation type IIm 18
                  congenital disorder of glycosylation type IIn 1
                  congenital disorder of glycosylation type IIo 1
                  congenital disorder of glycosylation type IIp 1
                  congenital disorder of glycosylation type IIq 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.