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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1451 - 1475 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0080199
  • colorectal carcinoma
Rattus norvegicus (Norway rat)
DOID:0080199
  • colorectal carcinoma
Homo sapiens (human)
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Homo sapiens (human)
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Mus musculus (house mouse)
DOID:0080202
  • adenoid cystic carcinoma
Homo sapiens (human)
DOID:0080204
  • renal hypoplasia
Homo sapiens (human)
DOID:0080205
  • CAKUT
  • Aliases:
    • Congenital anomalies of the kidney and urinary tract
    • Renal or urinary tract malformation
Mus musculus (house mouse)
DOID:0080205
  • CAKUT
  • Aliases:
    • Congenital anomalies of the kidney and urinary tract
    • Renal or urinary tract malformation
Homo sapiens (human)
DOID:0080206
  • CAKUT1
  • Aliases:
    • Congenital anomalies of the kidney and urinary tract 1
Homo sapiens (human)
DOID:0080207
  • CAKUT2
  • Aliases:
    • Congenital anomalies of the kidney and urinary tract 2
Homo sapiens (human)
DOID:0080208
  • metabolic dysfunction-associated steatotic liver disease
  • Aliases:
    • MAFLD
    • MASLD
    • NAFLD
    • metabolic dysfunction-associated fatty liver disease
    • metabolic dysfunction-related steatotic liver disease
    • metabolic-associated fatty liver disease
    • non-alcoholic fatty liver disease
    • nonalcoholic fatty liver disease
Homo sapiens (human)
DOID:0080208
  • metabolic dysfunction-associated steatotic liver disease
  • Aliases:
    • MAFLD
    • MASLD
    • NAFLD
    • metabolic dysfunction-associated fatty liver disease
    • metabolic dysfunction-related steatotic liver disease
    • metabolic-associated fatty liver disease
    • non-alcoholic fatty liver disease
    • nonalcoholic fatty liver disease
Mus musculus (house mouse)
DOID:0080208
  • metabolic dysfunction-associated steatotic liver disease
  • Aliases:
    • MAFLD
    • MASLD
    • NAFLD
    • metabolic dysfunction-associated fatty liver disease
    • metabolic dysfunction-related steatotic liver disease
    • metabolic-associated fatty liver disease
    • non-alcoholic fatty liver disease
    • nonalcoholic fatty liver disease
Rattus norvegicus (Norway rat)
DOID:0080209
  • sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
  • Aliases:
    • SIFD
Homo sapiens (human)
DOID:0080212
  • polycystic kidney disease 4
  • Aliases:
    • pkd3
    • polycystic kidney and hepatic disease 1
    • polycystic kidney disease 4 with or without hepatic disease
    • polycystic kidney disease, autosomal recessive
    • polycystic kidney disease, infantile, type i
Mus musculus (house mouse)
DOID:0080212
  • polycystic kidney disease 4
  • Aliases:
    • pkd3
    • polycystic kidney and hepatic disease 1
    • polycystic kidney disease 4 with or without hepatic disease
    • polycystic kidney disease, autosomal recessive
    • polycystic kidney disease, infantile, type i
Homo sapiens (human)
DOID:0080217
  • lysosomal acid lipase deficiency
  • Aliases:
    • LAL deficiency
    • LAL-D
Homo sapiens (human)
DOID:0080217
  • lysosomal acid lipase deficiency
  • Aliases:
    • LAL deficiency
    • LAL-D
Mus musculus (house mouse)
DOID:0080218
  • primary spontaneous pneumothorax
Homo sapiens (human)
DOID:0080219
  • dystransthyretinemic hyperthyroxinemia
Homo sapiens (human)
DOID:0080222
  • pseudohypoparathyroidism type 1B
  • Aliases:
    • PHP Ib
Homo sapiens (human)
DOID:0080224
  • autosomal dominant dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0080226
  • autosomal dominant intellectual developmental disorder 56
  • Aliases:
    • autosomal dominant intellectual developmental disorder-56
    • autosomal dominant mental retardation 56
Homo sapiens (human)
DOID:0080227
  • autosomal dominant intellectual developmental disorder 55
  • Aliases:
    • autosomal dominant intellectual developmental disorder-55 with seizures
    • autosomal dominant mental retardation 55
Homo sapiens (human)
DOID:0080228
  • autosomal dominant intellectual developmental disorder 53
  • Aliases:
    • autosomal dominant mental retardation 53
Homo sapiens (human)

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Last updated: December 8, 2025