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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 9276 - 9300 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0060248
  • Simpson-Golabi-Behmel syndrome type 1
  • Aliases:
    • DGSX Golabi-Rosen syndrome
    • Golabi-Rosen syndrome
    • SGB syndrome
    • Sara Angers syndrome
    • Simpson dysmorphia syndrome
    • X-linked dysplasia gigantism syndrome
    • bulldog syndrome
Homo sapiens (human)
DOID:2129
  • atypical teratoid rhabdoid tumor
  • Aliases:
    • Atypical teratoid/rhabdoid tumor
    • Atypical teratoid/rhabdoid tumour
    • Rhabdoid tumor of the CNS
    • Rhabdoid tumour of the CNS
    • atypical teratoid rhabdoid tumour
Homo sapiens (human)
DOID:0111446
  • progressive myoclonus epilepsy 3
  • Aliases:
    • CLN14 disease
    • EPM3
    • PME type 3
    • Progressive myoclonic epilepsy due to KCTD7 deficiency
    • Progressive myoclonus epilepsy type 3
    • neuronal ceroid lipofuscinosis 14
Homo sapiens (human)
DOID:0111057
  • platelet-type bleeding disorder 11
  • Aliases:
    • BDPLT11
    • GP VI deficiency
    • glycoprotein VI deficiency
Homo sapiens (human)
DOID:11847
  • coronary thrombosis
  • Aliases:
    • Coronary artery thrombosis
Homo sapiens (human)
DOID:0111056
  • platelet-type bleeding disorder 3
  • Aliases:
    • BDPLT3
    • PT-VWD
    • platelet type-von Willebrand disease
    • pseudo-von Willebrand disease
    • von Willebrand disease platelet-type
Homo sapiens (human)
DOID:0111059
  • Bernard-Soulier syndrome type A2
  • Aliases:
    • BSSA2
Homo sapiens (human)
DOID:1725
  • peritoneum cancer
Homo sapiens (human)
DOID:2217
  • Bernard-Soulier syndrome
  • Aliases:
    • Bernard - Soulier thrombopathy
    • Bernard Soulier syndrome
    • Giant platelet syndrome
    • Hemorrhagic dystrophic thrombocytopenia
    • Thrombopathy, Bernard-Soulier
Homo sapiens (human)
DOID:8850
  • salivary gland cancer
  • Aliases:
    • malignant neoplasm of salivary gland
Homo sapiens (human)
DOID:0111402
  • mucopolysaccharidosis type IIID
  • Aliases:
    • GNS deficiency
    • MPS IIID
    • MPS3D
    • Mucopolysaccharidosis type 3D
    • N-acetylglucosamine-6-sulfatase deficiency
    • Sanfilippo syndrome D
    • Sanfilippo syndrome type D
Homo sapiens (human)
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Homo sapiens (human)
DOID:0111394
  • mucopolysaccharidosis type IIIB
  • Aliases:
    • MPS3B
    • MPSIIIB
    • Mucopoly-saccharidosis type 3B
    • Mucopolysaccharidosis type 3B
    • N-acetyl-alpha-glucosaminidase deficiency
    • NAGLU deficiency
    • Sanfilippo syndrome type B
    • mucopolysaccharidosis type IIIB (Sanfilippo B)
Homo sapiens (human)
DOID:0111393
  • mucopolysaccharidosis type IIIC
  • Aliases:
    • Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
    • HGSNAT deficiency
    • Heparan-alpha-glucosaminide N-acetyltransferase deficiency
    • MPS3C
    • MPSIIIC
    • Mucopolysaccharidosis type 3C
    • Sanfilippo syndrome type C
    • mucopolysaccharidosis type IIIC (Sanfilippo C)
Homo sapiens (human)
DOID:12801
  • mucopolysaccharidosis III
  • Aliases:
    • Mucopolysaccharidosis, MPS-III
    • N-sulphoglucosamine sulphohydrolase deficiency
    • Sanfilippo's syndrome
    • heparan sulfate sulfatase deficiency
Homo sapiens (human)
DOID:0080678
  • mucolipidosis III gamma
Homo sapiens (human)
DOID:0080070
  • mucolipidosis II alpha/beta
  • Aliases:
    • I-cell disease
    • inclusion-cell disease
    • mucolipidosis II
Homo sapiens (human)
DOID:0080071
  • mucolipidosis III alpha/beta
  • Aliases:
    • mucolipidosis III
    • pseudo-Hurler polydystrophy
Homo sapiens (human)
DOID:0080488
  • mucolipidosis
Homo sapiens (human)
DOID:3343
  • glycoproteinosis
  • Aliases:
    • Mucolipidosis type I
    • sialidosis
Homo sapiens (human)
DOID:0080753
  • keratosis follicularis spinulosa decalvans
Homo sapiens (human)
DOID:0110852
  • rhizomelic chondrodysplasia punctata type 2
  • Aliases:
    • Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Dhapat Deficiency
    • Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Glyceronephosphate O-Acyltransferase Deficiency
    • Gnpat Deficiency
    • Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Rcdp2
Homo sapiens (human)
DOID:0111037
  • glycine N-methyltransferase deficiency
  • Aliases:
    • GNMT deficiency
    • hypermethioninemia due to GNMT deficiency
    • hypermethioninemia due to glycine N-methyltransferase deficiency
Homo sapiens (human)
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Homo sapiens (human)
DOID:3659
  • sialuria
Homo sapiens (human)
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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024