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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 4126 - 4150 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:14504
  • Niemann-Pick disease
  • Aliases:
    • Sphingomyelinase Deficiency Disease
    • lipoid histiocytosis
    • sphingomyelin lipidosis
Mus musculus (house mouse)
DOID:4990
  • essential tremor
  • Aliases:
    • benign essential tremor
    • essential hereditary tremor
    • shaky hand syndrome
Homo sapiens (human)
DOID:0111428
  • essential tremor 1
  • Aliases:
    • ETM1
    • hereditary essential tremor 1
Homo sapiens (human)
DOID:0111035
  • CADASIL 1
  • Aliases:
    • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
Mus musculus (house mouse)
DOID:251
  • alcohol-induced mental disorder
Homo sapiens (human)
DOID:480
  • movement disease
Homo sapiens (human)
DOID:2736
  • Hajdu-Cheney syndrome
  • Aliases:
    • Cheney syndrome
    • HJCYS
    • SFPKS
    • acroosteolysis with osteoporosis and changes in skull and mandible
    • arthrodentoosteodysplasia
    • serpentine fibula-polycystic kidney syndrome
Mus musculus (house mouse)
DOID:13042
  • persistent fetal circulation syndrome
  • Aliases:
    • Fetal circulation
    • Persistent fetal circulation
    • Persistent foetal circulation
    • congenital alveolar capillary dysplasia with misalignment of pulmonary veins
    • persistent foetal circulation syndrome
    • persistent pulmonary hypertension of the newborn
Mus musculus (house mouse)
DOID:10825
  • essential hypertension
  • Aliases:
    • idiopathic hypertension
    • primary hypertension
Mus musculus (house mouse)
DOID:0080171
  • esophageal atresia/tracheoesophageal fistula
  • Aliases:
    • esophageal atresia and/or tracheoesophageal fistula
    • tracheoesophageal fistula with or without esohageal atresia
Mus musculus (house mouse)
DOID:1074
  • kidney failure
  • Aliases:
    • renal failure
Homo sapiens (human)
DOID:0060296
  • congenital secretory chloride diarrhea 1
  • Aliases:
    • congenital chloride diarrhea finnish type
    • congenital chloride diarrhoea finnish type
    • congenital chloridorrhea
    • congenital secretory chloride diarrhoea 1
Homo sapiens (human)
DOID:13250
  • diarrhea
Homo sapiens (human)
DOID:14452
  • hypokalemic periodic paralysis
  • Aliases:
    • Hypokalemic familial periodic paralysis
    • Periodic paralysis I
    • Westphal disease
    • familial hypokalemic periodic paralysis
    • periodic hypokalemic paralysis
Caenorhabditis elegans
DOID:670
  • amphetamine abuse
Caenorhabditis elegans
DOID:14218
  • dihydropyrimidine dehydrogenase deficiency
  • Aliases:
    • Dihydrouracil Dehydrogenase deficiency
    • familial pyrimidinaemia
    • thymine-uracilurea
Homo sapiens (human)
DOID:1184
  • nephrotic syndrome
Caenorhabditis elegans
DOID:0070063
  • autosomal dominant intellectual developmental disorder 33
  • Aliases:
    • MRD33
    • autosomal dominant mental retardation 33
    • autosomal dominant non-syndromic intellectual disability 33
Homo sapiens (human)
DOID:12377
  • spinal muscular atrophy
Homo sapiens (human)
DOID:0110165
  • Charcot-Marie-Tooth disease type 2E
  • Aliases:
    • CMT2E
    • Charcot-Marie-Tooth neuropathy type 2E
    • autosomal dominant Charcot-Marie-Tooth disease type 2E
Mus musculus (house mouse)
DOID:0112102
  • Sotos syndrome 2
  • Aliases:
    • SOTOS2
Mus musculus (house mouse)
DOID:13300
  • Scheuermann's disease
  • Aliases:
    • Juvenile osteochondritis of the spine
    • Juvenile osteochondrosis of Scheurermann
    • Juvenile osteochondrosis of spine
    • Scheuermann's kyphosis
    • Sherman's Disease
Mus musculus (house mouse)
DOID:0080642
  • Middle East respiratory syndrome
Homo sapiens (human)
DOID:0070478
  • diphthamide deficiency syndrome 2
  • Aliases:
    • DEDSSH2
    • developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Homo sapiens (human)
DOID:0111253
  • neurofibromatosis 1
  • Aliases:
    • NF1
    • Peripheral Neurofibromatosis
    • Recklinghausen's neurofibromatosis
    • neurofibromatosis type I
    • von Recklinghausen Disease
Mus musculus (house mouse)
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Last updated: April 7, 2025