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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2801 - 2825 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0112139
  • nuclear type mitochondrial complex I deficiency 35
  • Aliases:
    • MC1DN35
Rattus norvegicus (Norway rat)
DOID:0111196
  • X-linked distal spinal muscular atrophy 3
  • Aliases:
    • ATP7A-related distal motor neuropathy
    • DSMAX
    • SMAX3
    • X-linked dHMN3
    • X-linked dSMA3
    • X-linked distal hereditary motor neuropathy type 3
    • X-linked recessive distal spinal muscular atrophy
Rattus norvegicus (Norway rat)
DOID:0080730
  • Ehlers-Danlos syndrome cardiac valvular type
Rattus norvegicus (Norway rat)
DOID:0070145
  • hereditary sensory and autonomic neuropathy type 5
  • Aliases:
    • HSAN5
    • hereditary sensory and autonomic neuropathy type V
Rattus norvegicus (Norway rat)
DOID:0111583
  • carboxypeptidase N deficiency
  • Aliases:
    • anaphylotoxin inactivator deficiency
    • deficiency of carboxypeptidase B
Rattus norvegicus (Norway rat)
DOID:0090144
  • Donnai-Barrow syndrome
  • Aliases:
    • DBS/FOAR syndrome
    • FOAR syndrome
    • Holmes-Schepens syndrome
    • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
    • diaphragmatic hernia-exomphalos-hypertelorism syndrome
    • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
    • facio-oculo-acoustico-renal syndrome
    • faciooculoacousticorenal syndrome
    • syndrome of ocular and facial anomalies, telecanthus and deafness
Rattus norvegicus (Norway rat)
DOID:13938
  • amenorrhea
  • Aliases:
    • absence of menstruation
    • amenia
Rattus norvegicus (Norway rat)
DOID:14550
  • root resorption
Rattus norvegicus (Norway rat)
DOID:853
  • polymyalgia rheumatica
Rattus norvegicus (Norway rat)
DOID:0080447
  • developmental and epileptic encephalopathy 43
  • Aliases:
    • DEE43
    • early infantile epileptic encephalopathy 43
Rattus norvegicus (Norway rat)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Rattus norvegicus (Norway rat)
DOID:768
  • retinoblastoma
  • Aliases:
    • RB
    • RB - Retinoblastoma
    • neuroblastoma of Retina
Rattus norvegicus (Norway rat)
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Rattus norvegicus (Norway rat)
DOID:987
  • alopecia
Rattus norvegicus (Norway rat)
DOID:9452
  • steatotic liver disease
  • Aliases:
    • Fatty change of liver
    • SLD
    • Steatosis of liver
    • alcoholic fatty liver
    • fatty liver disease
    • hepatic lipidosis
    • hepatic steatosis
Rattus norvegicus (Norway rat)
DOID:0060785
  • adult-onset autosomal dominant demyelinating leukodystrophy
  • Aliases:
    • ADLD
    • adult-onset autosomal dominant leukodystrophy
    • autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
Rattus norvegicus (Norway rat)
DOID:0060591
  • WHIM syndrome
  • Aliases:
    • WHIMS
    • warts, hypogammaglobulinemia, infections, and myelokathexis
    • warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Rattus norvegicus (Norway rat)
DOID:0080686
  • tubular aggregate myopathy 2
Rattus norvegicus (Norway rat)
DOID:0080108
  • myoglobinuria
Rattus norvegicus (Norway rat)
DOID:2738
  • pseudoxanthoma elasticum
  • Aliases:
    • Gronblad-Strandberg syndrome
Rattus norvegicus (Norway rat)
DOID:14183
  • alcoholic neuropathy
  • Aliases:
    • Alcohol-related polyneuropathy
    • Alcoholic polyneuropathy
Rattus norvegicus (Norway rat)
DOID:1068
  • juvenile glaucoma
  • Aliases:
    • Glaucoma of childhood
Rattus norvegicus (Norway rat)
DOID:0060075
  • estrogen-receptor positive breast cancer
Rattus norvegicus (Norway rat)
DOID:12930
  • dilated cardiomyopathy
  • Aliases:
    • primary dilated cardiomyopathy
Rattus norvegicus (Norway rat)
DOID:0080690
  • RASopathy
  • Aliases:
    • RAS/mitogen-activated protein kinase syndrome
Rattus norvegicus (Norway rat)

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Last updated: December 9, 2024