GlyCosmos Diseases

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

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1476 - 1500 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:1925
  • Coffin-Siris syndrome
  • Aliases:
    • Dwarfism-Onychodysplasia
    • Fifth Digit Syndrome
    • Short Stature-Onychodysplasia.
Homo sapiens (human)
DOID:0070042
  • Coffin-Siris syndrome 1
  • Aliases:
    • CSS1
    • MRD12
    • autosomal dominant mental retardation 12
    • fifth digit syndrome
Homo sapiens (human)
DOID:0111530
  • linear nevus sebaceous syndrome
  • Aliases:
    • JNP
    • Jadassohn nevus phakomatosis
    • SFM syndrome
    • Schimmelpenning Feuerstein Mims syndrome
    • Schimmelpenning syndrome
    • Solomon syndrome
    • nevus sebaceus of Jadassohn
    • nevus sebaceus syndrome
    • organoid nevus phakomatosis
    • organoid nevus syndrome
Homo sapiens (human)
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Homo sapiens (human)
DOID:0080021
  • Schmid metaphyseal chondrodysplasia
  • Aliases:
    • Japanese type spondylometaphyseal dysplasia
    • Schmid type metaphyseal dysplasia
Homo sapiens (human)
DOID:0111167
  • Dyggve-Melchior-Clausen disease
  • Aliases:
    • DMC disease
    • pseudo-Morquio disease type I
Homo sapiens (human)
DOID:0060465
  • fibrochondrogenesis
Homo sapiens (human)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Homo sapiens (human)
DOID:0080110
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome
  • Aliases:
    • multiple pterygium syndrome
Homo sapiens (human)
DOID:0060055
  • popliteal pterygium syndrome
  • Aliases:
    • facio-genito-popliteal syndrome
    • popliteal web syndrome
Homo sapiens (human)
DOID:3783
  • Coffin-Lowry syndrome
Homo sapiens (human)
DOID:0111405
  • Fraser syndrome 1
  • Aliases:
    • FRASRS1
Homo sapiens (human)
DOID:0111237
  • congenital muscular dystrophy-dystroglycanopathy type A1
  • Aliases:
    • MDDGA1
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
Homo sapiens (human)
DOID:0060402
  • chromosome 17p13.1 deletion syndrome
Homo sapiens (human)
DOID:14731
  • Weaver syndrome
  • Aliases:
    • WEAVER-LIKE SYNDROME
    • Weaver-Williams syndrome
Homo sapiens (human)
DOID:13100
  • intracranial vasospasm
Homo sapiens (human)
DOID:0110221
  • Brugada syndrome 4
  • Aliases:
    • BRGDA4
Homo sapiens (human)
DOID:0110226
  • Brugada syndrome 9
  • Aliases:
    • BRGDA9
Homo sapiens (human)
DOID:0110223
  • Brugada syndrome 6
  • Aliases:
    • BRGDA6
Homo sapiens (human)
DOID:0110220
  • Brugada syndrome 3
  • Aliases:
    • BRGDA3
Homo sapiens (human)
DOID:0050451
  • Brugada syndrome
  • Aliases:
    • Bangungut
    • Brugada type idiopathic ventricular fibrillation
    • Dream disease
    • Pokkuri death syndrome
    • SUNDS
    • sudden unexplained nocturnal death syndrome
Homo sapiens (human)
DOID:0110224
  • Brugada syndrome 7
  • Aliases:
    • BRGDA7
Homo sapiens (human)
DOID:0110225
  • Brugada syndrome 8
  • Aliases:
    • BRGDA8
Homo sapiens (human)
DOID:0110222
  • Brugada syndrome 5
  • Aliases:
    • BRGDA5
Homo sapiens (human)
DOID:0110218
  • Brugada syndrome 1
  • Aliases:
    • BRGDA1
Homo sapiens (human)

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Last updated: August 19, 2024