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Searched for "Congenital Disorders of Glycosylation".

43 results found on Genetics Home Reference.

Showing results 1 to 20.
  • congenital disorder of glycosylation type Ic condition summary
    Related classification: Congenital Disorders of Glycosylation
    Related genes:
  • congenital disorder of glycosylation type IIi condition summary
    Related classification: Congenital Disorders of Glycosylation
    Related genes:
  • congenital disorder of glycosylation type Ia condition summary
    Related classification: Congenital Disorders of Glycosylation
    Related genes:
  • Peters plus syndrome condition summary
    Related term: congenital disorders of glycosylation
    Related genes:
  • B3GALTL gene summary
    Official name: beta 1,3-galactosyltransferase-like
    Related term: congenital disorders of glycosylation
  • cutis laxa condition summary
    Related term: congenital disorder of glycosylation
    Related genes:
  • ATP6V0A2 gene summary
    Official name: ATPase, H+ transporting, lysosomal V0 subunit a2
    Related term: congenital disorder of glycosylation
  • ALG1 gene information
    Official name: ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • STT3B gene information
    Official name: STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • COG7 gene information
    Official name: component of oligomeric golgi complex 7
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • COG4 gene information
    Official name: component of oligomeric golgi complex 4
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • MPDU1 gene information
    Official name: mannose-P-dolichol utilization defect 1
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • RFT1 gene information
    Official name: RFT1 homolog (S. cerevisiae)
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • DPAGT1 gene information
    Official name: dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • ALG8 gene information
    Official name: ALG8, alpha-1,3-glucosyltransferase
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • ALG12 gene information
    Official name: ALG12, alpha-1,6-mannosyltransferase
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • ALG3 gene information
    Official name: ALG3, alpha-1,3- mannosyltransferase
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • ALG2 gene information
    Official name: ALG2, alpha-1,3/1,6-mannosyltransferase
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
  • TMEM165 gene information
    Official name: transmembrane protein 165
    Found: ...and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein...
  • SRD5A3 gene information
    Official name: steroid 5 alpha-reductase 3
    Found: ...serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical...
 
Published: December 16, 2014