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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1276 - 1300 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111412
  • exudative vitreoretinopathy 1
  • Aliases:
    • EVR1
Homo sapiens (human)
DOID:0060844
  • Norrie disease
  • Aliases:
    • Episkopi blindness
    • Norrie-Warburg disease
    • atrophia bulborum hereditaria
Homo sapiens (human)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Homo sapiens (human)
DOID:0111067
  • congenital bile acid synthesis defect 6
  • Aliases:
    • CBAS6
Homo sapiens (human)
DOID:0112166
  • autosomal dominant nonsyndromic deafness 75
  • Aliases:
    • DFNA75
Homo sapiens (human)
DOID:0050934
  • ovarian clear cell carcinoma
  • Aliases:
    • clear-cell ovarian carcinoma
Homo sapiens (human)
DOID:0070044
  • Coffin-Siris syndrome 2
  • Aliases:
    • CSS2
    • MRD14
    • autosomal dominant mental retardation 14
Homo sapiens (human)
DOID:0070042
  • Coffin-Siris syndrome 1
  • Aliases:
    • CSS1
    • MRD12
    • autosomal dominant mental retardation 12
    • fifth digit syndrome
Homo sapiens (human)
DOID:0070187
  • Y-linked spermatogenic failure 2
  • Aliases:
    • SPGFY2
    • nonobstructive Y-linked spermatogenic failure
Homo sapiens (human)
DOID:0080244
  • Galloway-Mowat syndrome 2
Homo sapiens (human)
DOID:0110275
  • autosomal recessive limb-girdle muscular dystrophy type 2A
  • Aliases:
    • LGMD2A
    • Leyden-Moebius muscular dystrophy
    • limb-girdle muscular dystrophy due to calpain deficiency
    • muscular dystrophy, limb-girdle, type 2A
    • pelvofemoral muscular dystrophy
    • primary calpainopathy
Homo sapiens (human)
DOID:0110273
  • autosomal dominant limb-girdle muscular dystrophy
Homo sapiens (human)
DOID:0070380
  • developmental and epileptic encephalopathy 85
  • Aliases:
    • DEE85
    • early infantile epileptic encephalopathy 85
Homo sapiens (human)
DOID:0111780
  • TARP syndrome
  • Aliases:
    • Pierre Robin sequence-congenital heart defect-talipes syndrome
    • Pierre Robin syndrome-congenital heart defect-talipes syndrome
    • TARPS
    • talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
Homo sapiens (human)
DOID:0112025
  • female-restricted syndromic X-linked intellectual disability 99
  • Aliases:
    • MRXS99F
    • X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
    • female-restricted syndromic X-linked mental retardation 99
Homo sapiens (human)
DOID:0112026
  • non-syndromic X-linked intellectual disability 99
  • Aliases:
    • MRX99
    • X-linked mental retardation 99
Homo sapiens (human)
DOID:0110821
  • hereditary spastic paraplegia 76
  • Aliases:
    • SPG76
    • autosomal recessive spastic paraplegia 76
Homo sapiens (human)
DOID:0110977
  • brachydactyly type A1C
  • Aliases:
    • BDA1C
Homo sapiens (human)
DOID:0110970
  • brachydactyly type C
  • Aliases:
    • BDC
Homo sapiens (human)
DOID:0081318
  • multiple synostoses syndrome 2
Homo sapiens (human)
DOID:0080788
  • proximal symphalangism 2
Homo sapiens (human)
DOID:0080052
  • acromesomelic dysplasia, Grebe type
  • Aliases:
    • acromesomelic dysplasia-2A
    • grebe chondrodysplasia
Homo sapiens (human)
DOID:0050790
  • fibular hypoplasia and complex brachydactyly
  • Aliases:
    • Du Pan syndrome
    • acromesomelic dysplasia-2B
Homo sapiens (human)
DOID:0080051
  • acromesomelic dysplasia, Hunter-Thompson type
  • Aliases:
    • acromesomelic dwarfism
    • acromesomelic dysplasia-2C
Homo sapiens (human)
DOID:0060931
  • developmental dysplasia of the hip 1
  • Aliases:
    • DDH1
Homo sapiens (human)
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Last updated: December 9, 2024