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 2751 - 2775 of 4621 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism
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:0060777
  • congenital secretory sodium diarrhea 8
  • Aliases:
    • DIAR8
Homo sapiens (human)
DOID:0060781
  • congenital secretory sodium diarrhea 3
  • Aliases:
    • congenital secretory sodium diarrhea 3 syndromic
    • congenital secretory sodium diarrhea 3 with or without other congenital anomalies
    • congenital secretory sodium diarrhoea 3
    • congenital secretory sodium diarrhoea 3 syndromic
    • congenital secretory sodium diarrhoea 3 with or without other congenital anomalies
Homo sapiens (human)
DOID:0060261
  • congenital ptosis
Homo sapiens (human)
DOID:9649
  • congenital nystagmus
Homo sapiens (human)
DOID:2861
  • congenital nonspherocytic hemolytic anemia
  • Aliases:
    • HNSHA
    • congenital nonspherocytic hemolytic anaemia
    • hereditary nonspherocytic hemolytic anaemia
    • hereditary nonspherocytic hemolytic anemia
Homo sapiens (human)
DOID:0070128
  • congenital nongoitrous hypothyroidism 6
  • Aliases:
    • CHNG6
Homo sapiens (human)
DOID:0070125
  • congenital nongoitrous hypothyroidism 5
  • Aliases:
    • CHNG5
Homo sapiens (human)
DOID:0070123
  • congenital nongoitrous hypothyroidism 4
  • Aliases:
    • CHNG4
    • isolated thyrotropin deficiency
Homo sapiens (human)
DOID:0070127
  • congenital nongoitrous hypothyroidism 3
  • Aliases:
    • CHNG3
Homo sapiens (human)
DOID:0070124
  • congenital nongoitrous hypothyroidism 2
  • Aliases:
    • CHNG2
    • congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Homo sapiens (human)
DOID:0070126
  • congenital nongoitrous hypothyroidism 1
  • Aliases:
    • CHNG1
    • TSH resistance
Homo sapiens (human)
DOID:0081337
  • congenital myopathy
Homo sapiens (human)
DOID:0080102
  • congenital myopathy 4A
  • Aliases:
    • CFTD
    • congenital fiber-type disproportion
Homo sapiens (human)
DOID:3529
  • congenital myopathy 1A
  • Aliases:
    • central core disease
    • central core myopathy
Homo sapiens (human)
DOID:3635
  • congenital myasthenic syndrome
Homo sapiens (human)
DOID:0110657
  • congenital myasthenic syndrome 8
  • Aliases:
    • CMS8
    • congenital myasthenic syndrome 8 with pre- and postsynaptic defects
    • congenital myasthenic syndrome due to agrin deficiency
Homo sapiens (human)
DOID:0110671
  • congenital myasthenic syndrome 6
  • Aliases:
    • CMS Ia2
    • CMS1A2
    • CMS6
    • CMSEA
    • FIM
    • FIMG2
    • congenital myasthenic syndrome 6, presynaptic
    • congenital myasthenic syndrome type Ia2
    • congenital presynaptic myasthenic syndrome associated with episodic apnea
    • familial infantile myasthenia
    • familial infantile myasthenia gravis 2
Homo sapiens (human)
DOID:0110667
  • congenital myasthenic syndrome 5
  • Aliases:
    • CMS Ic
    • CMS5
    • EAD
    • Engel congenital myasthenic syndrome
    • congenital myasthenic syndrome Engel type
    • congenital myasthenic syndrome type Ic
    • end plate acetylcholinesterase deficiency
Homo sapiens (human)
DOID:0110679
  • congenital myasthenic syndrome 4C
  • Aliases:
    • CMS Id
    • CMS1D
    • CMS4C
    • FIM1
    • congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
    • congenital myasthenic syndrome type Id
    • familial infantile myasthenia 1
Homo sapiens (human)
DOID:0080587
  • congenital myasthenic syndrome 22
Homo sapiens (human)
DOID:0110672
  • congenital myasthenic syndrome 21
  • Aliases:
    • CMS21
    • congenital myasthenic syndrome 21, presynaptic
Homo sapiens (human)
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
Homo sapiens (human)
DOID:0110669
  • congenital myasthenic syndrome 14
  • Aliases:
    • CMS14
    • CMSTA3
    • congenital myasthenic syndrome 14, with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 3
Homo sapiens (human)
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Homo sapiens (human)

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Last updated: August 19, 2024