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 5926 - 5950 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0110062
  • amelogenesis imperfecta hypomaturation type 2A4
  • Aliases:
    • AI2A4
    • amelogenesis imperfecta hypomaturation type IIA4
    • amelogenesis imperfecta type IIA4
Homo sapiens (human)
DOID:0110057
  • amelogenesis imperfecta type 2A1
  • Aliases:
    • AI2A1
    • amelogenesis imperfecta pigmented hypomaturation type 1
    • amelogenesis imperfecta type IIA1
Homo sapiens (human)
DOID:0110058
  • amelogenesis imperfecta type 1E
  • Aliases:
    • AIH1
    • X-linked amelogenesis imperfecta 1
    • X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1
    • amelogenesis imperfecta hypomaturationtype with snow-capped teeth
    • amelogenesis imperfecta type IE
Homo sapiens (human)
DOID:701
  • dentin dysplasia
  • Aliases:
    • Dentinal dysplasia
Homo sapiens (human)
DOID:2187
  • amelogenesis imperfecta
Homo sapiens (human)
DOID:0110066
  • amelogenesis imperfecta type 1G
  • Aliases:
    • AI1G
    • AIGFS
    • ERS
    • amelogenesis imperfecta and gingival fibromatosis syndrome
    • amelogenesis imperfecta hypoplastic with nephrocalcinosis
    • amelogenesis imperfecta type IG
    • enamel-renal syndrome
    • enamel-renal-gingival syndrome
Homo sapiens (human)
DOID:1923
  • disorder of sexual development
  • Aliases:
    • sex development disorder
    • sex differentiation disease
Homo sapiens (human)
DOID:3765
  • pseudohermaphroditism
  • Aliases:
    • Indeterminate sex and pseudohermaphroditism
Homo sapiens (human)
DOID:3763
  • hermaphroditism
Homo sapiens (human)
DOID:0110740
  • neurodegeneration with brain iron accumulation 6
  • Aliases:
    • CoPAN
    • NBIA6
    • Neurodegeneration with brain iron accumulation due to COASY mutation
Homo sapiens (human)
DOID:0110738
  • neurodegeneration with brain iron accumulation 4
  • Aliases:
    • MPAN
    • Mitochondrial Protein-Associated Neurodegeneration
    • NBIA due to C19orf12 mutation
    • NBIA4
    • Neurodegeneration with brain iron accumulation due to C19orf12 mutation
    • Neurodegeneration with brain iron accumulation type 4
Homo sapiens (human)
DOID:0110736
  • neurodegeneration with brain iron accumulation 2b
  • Aliases:
    • NBIA2b
    • Neuroaxonal Dystrophy, Atypical
    • Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Homo sapiens (human)
DOID:0110737
  • neurodegeneration with brain iron accumulation 3
  • Aliases:
    • Adult basal ganglia disease
    • Ferritin-related neurodegeneration
    • Hereditary ferritinopathy
    • NBIA3
    • Neuroferritinopathy
    • Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
Homo sapiens (human)
DOID:3981
  • pantothenate kinase-associated neurodegeneration
  • Aliases:
    • Hallervorden-Spatz disease
    • Hallervorden-Spatz syndrome
    • NBIA1
    • Pigmentary pallidal degeneration
    • brain Iron Accumulation type I syndrome
    • neurodegeneration with brain iron accumulation 1
Homo sapiens (human)
DOID:0110735
  • neurodegeneration with brain iron accumulation 2a
  • Aliases:
    • INAD1
    • Infantile Neuroaxonal Dystrophy 1
    • NBIA2a
    • Neurodegeneration, Pla2g6-Associated
    • Seitelberger Disease
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Homo sapiens (human)
DOID:0110739
  • neurodegeneration with brain iron accumulation 5
  • Aliases:
    • BPAN
    • Beta-Propeller Protein-Associated Neurodegeneration
    • NBIA5
    • SENDA
    • Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Homo sapiens (human)
DOID:0060490
  • Schimke immuno-osseous dysplasia
  • Aliases:
    • Schimke immunoosseous dysplasia
    • Schimke syndrome
    • immunoosseous dysplasia Schimke type
    • spondyloepiphyseal dysplasia - nephrotic syndrome
Homo sapiens (human)
DOID:4404
  • occupational dermatitis
  • Aliases:
    • Occupational allergic contact dermatitis
    • Occupational eczema
Homo sapiens (human)
DOID:2773
  • contact dermatitis
  • Aliases:
    • Contact dermatitis/eczema
    • Contact eczema
    • Dermatitis, venenata
    • dermatitis venenata
Homo sapiens (human)
DOID:3118
  • hepatobiliary disease
  • Aliases:
    • liver and biliary tract disease
Homo sapiens (human)
DOID:0070210
  • hereditary lymphedema IA
  • Aliases:
    • LMPH1A
Homo sapiens (human)
DOID:0050580
  • hereditary lymphedema
Homo sapiens (human)
DOID:0070212
  • hereditary lymphedema I
  • Aliases:
    • LMPH1
    • Milroy disease
    • Nonne-Milroy lymphedema
    • PCL
    • congenital primary lymphedema
    • hereditary lymphedema type I
Homo sapiens (human)
DOID:8791
  • breast carcinoma in situ
  • Aliases:
    • Non-Infiltrating carcinoma of breast
    • carcinoma in situ of breast
Homo sapiens (human)

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Last updated: August 19, 2024