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 2901 - 2925 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0110969
  • brachydactyly type B1
  • Aliases:
    • BDB1
Homo sapiens (human)
DOID:0110961
  • atypical Gaucher's disease due to saposin c deficiency
Homo sapiens (human)
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Homo sapiens (human)
DOID:0110959
  • Gaucher's disease type III
  • Aliases:
    • GD III
    • Gaucher Disease, Chronic Neuronopathic Type
    • Gaucher Disease, Juvenile And Adult, Cerebral
    • Gaucher Disease, Subacute Neuronopathic Type
Homo sapiens (human)
DOID:0110958
  • Gaucher's disease type II
  • Aliases:
    • GD II
    • GD2
    • Gaucher Disease, Acute Neuronopathic Type
    • Infantile Cerebral Gaucher Disease
Homo sapiens (human)
DOID:0110957
  • Gaucher's disease type I
  • Aliases:
    • Acid Beta-Glucosidase Deficiency
    • GD I
    • GD1
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Glucocerebrosidase Deficiency
Homo sapiens (human)
DOID:0110949
  • Waardenburg syndrome type 3
  • Aliases:
    • Klein-Waardenburg syndrome
    • WS3
    • Waardenburg syndrome type III
    • Waardenburg syndrome with upper limb anomalies
Homo sapiens (human)
DOID:0110948
  • Waardenburg syndrome type 1
  • Aliases:
    • WS1
    • Waardenburg syndrome type I
Homo sapiens (human)
DOID:0110946
  • autosomal recessive osteopetrosis 7
  • Aliases:
    • OPTB7
    • autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • autosomal recessive osteopetrosis type 7
    • osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • osteopetrosis-hypogammaglobulinemia syndrome
Homo sapiens (human)
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Homo sapiens (human)
DOID:0110938
  • autosomal dominant osteopetrosis 2
  • Aliases:
    • Albers-Schonberg osteopetrosis
    • OPTA2
    • autosomal dominant Albers-Schonberg disease
    • autosomal dominant osteopetrosis type II
    • osteopetrosis autosomal dominant type 2
Homo sapiens (human)
DOID:0110937
  • autosomal dominant osteopetrosis 1
  • Aliases:
    • OPTA1
    • autosomal dominant osteopetrosis type 1
Homo sapiens (human)
DOID:0110921
  • familial hemophagocytic lymphohistiocytosis 1
  • Aliases:
    • FHL1
    • HLH1
    • HPLH1
Homo sapiens (human)
DOID:0110916
  • hereditary spherocytosis type 1
  • Aliases:
    • HS1
    • SPH1
    • hereditary spherocytosis 1
Homo sapiens (human)
DOID:0110915
  • childhood hypophosphatasia
Homo sapiens (human)
DOID:0110914
  • infantile hypophosphatasia
  • Aliases:
    • Hops
    • phosphoethanolaminuria
Homo sapiens (human)
DOID:0110913
  • adult hypophosphatasia
  • Aliases:
    • mild hypophosphatasia
Homo sapiens (human)
DOID:0110912
  • leukocyte adhesion deficiency 3
  • Aliases:
    • IADD
    • LAD1 variant
    • LAD1V
    • LAD3
    • integrin activation deficiency disease
    • leukocyte adhesion deficiency 1 variant
    • leukocyte adhesion deficiency type III
Homo sapiens (human)
DOID:0110910
  • leukocyte adhesion deficiency 1
  • Aliases:
    • LAD1
    • LFA1 immunodeficiency
    • leukocyte adhesion deficiency type I
    • lymphocyte function-associated antigen 1 immunodeficiency
Homo sapiens (human)
DOID:0110900
  • inflammatory bowel disease 2
  • Aliases:
    • IBD2
Homo sapiens (human)
DOID:0110892
  • inflammatory bowel disease 1
  • Aliases:
    • IBD1
Homo sapiens (human)
DOID:0110881
  • holoprosencephaly 1
  • Aliases:
    • HPE1
Homo sapiens (human)
DOID:0110871
  • congenital stationary night blindness 2A
  • Aliases:
    • congenital stationary night blindness 2A X-linked
Homo sapiens (human)
DOID:0110870
  • congenital stationary night blindness 1A
  • Aliases:
    • CSNB1A
    • NBMI
    • complete CSNB X-linked
    • congenital stationary night blindness 1A X-linked
    • congenital stationary night blindness with myopia
    • hemeralopia-myopia
    • myopia-night blindness
Homo sapiens (human)
DOID:0110865
  • congenital stationary night blindness 1B
  • Aliases:
    • CSNB1B
    • autosomal recessive complete congenital stationary night blindness
    • congenital stationary night blindness 1B autosomal recessive
Homo sapiens (human)

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Last updated: August 19, 2024