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 1276 - 1300 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0110789
  • hereditary spastic paraplegia 38
  • Aliases:
    • SPG38
    • autosomal dominant spastic paraplegia 38
    • autosomal dominant spastic paraplegia type 38
Homo sapiens (human)
DOID:0110187
  • Charcot-Marie-Tooth disease type 4K
  • Aliases:
    • CMT4K
    • SURF1-related CMT4
    • SURF1-related Charcot-Marie-Tooth disease type 4
    • SURF1-related severe demyelinating Charcot-Marie-Tooth disease
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
    • autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
Homo sapiens (human)
DOID:4232
  • extraosseous Ewing sarcoma
  • Aliases:
    • extraosseous Ewing's sarcoma
    • extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor
    • extraskeletal Ewing sarcom
Homo sapiens (human)
DOID:11823
  • hepatorenal syndrome
Homo sapiens (human)
DOID:1443
  • cerebral degeneration
  • Aliases:
    • Brain degeneration
Homo sapiens (human)
DOID:9598
  • fasciitis
Homo sapiens (human)
DOID:171
  • neuroectodermal tumor
  • Aliases:
    • primitive Neuroectodermal neoplasm
Homo sapiens (human)
DOID:11339
  • pneumocystosis
  • Aliases:
    • Pneumocystis carinii pneumonia
    • Pneumocystis jirovecii pneumonia
    • Pneumocystis pneumonia
    • Pneumocystosis pneumonia
    • pulmonary pneumocystosis
Homo sapiens (human)
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Homo sapiens (human)
DOID:12156
  • arachnoiditis
Homo sapiens (human)
DOID:12895
  • keratoconjunctivitis sicca
  • Aliases:
    • KCS
Homo sapiens (human)
DOID:0111120
  • nephronophthisis 9
  • Aliases:
    • NPHP9
Homo sapiens (human)
DOID:7426
  • cutaneous anthrax
Homo sapiens (human)
DOID:0060224
  • atrial fibrillation
  • Aliases:
    • A-fib
    • AFib
Homo sapiens (human)
DOID:11514
  • fissured tongue
  • Aliases:
    • Congenital fissure of tongue
    • Congenital plicated tongue
    • Fissure of tongue
    • Fissure of tongue, congenital
    • Furrowed tongue
    • Plicated tongue
    • Tongue, Fissured
    • geographic tongue and fissured tongue
    • lingua plicata
    • scrotal tongue
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Homo sapiens (human)
DOID:0060448
  • Fleck corneal dystrophy
  • Aliases:
    • FCD
    • Francois-Neetens speckled corneal dystrophy
Homo sapiens (human)
DOID:0111359
  • large congenital melanocytic nevus
  • Aliases:
    • Congenital pigmented nevus
    • GMN
    • Giant congenital melanocytic nevus
    • Giant pigmented hairy nevus
    • LCMN
Homo sapiens (human)
DOID:0060843
  • hereditary neuropathy with liability to pressure palsies
  • Aliases:
    • HNPP
    • current pressure-sensitive neuropathy
    • familial recurrent polyneuropathy
    • heterozygous microdeletion 17p11.2p12
    • potato-grubbing palsy
    • tomaculous neuropathy
    • tulip-bulb digger's palsy
Homo sapiens (human)
DOID:0111138
  • congenital generalized lipodystrophy type 4
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
    • congenital generalised lipodystrophy type 4
    • generalised congenital lipodystrophy type 4
    • generalised congenital lipodystrophy with myopathy
    • generalized congenital lipodystrophy type 4
    • generalized congenital lipodystrophy with myopathy
Homo sapiens (human)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Homo sapiens (human)
DOID:14692
  • Smith-Lemli-Opitz syndrome
  • Aliases:
    • Rutledge lethal multiple congenital anomaly syndrome
    • Smith-Opitz-Inborn syndrome
Homo sapiens (human)
DOID:2301
  • atrophy of prostate
Homo sapiens (human)
DOID:6498
  • seborrheic keratosis
Homo sapiens (human)
DOID:9620
  • vesicoureteral reflux
  • Aliases:
    • vesico-ureteral reflux
Homo sapiens (human)

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Last updated: August 19, 2024