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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 101 - 125 of 5716 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:0111059
  • Bernard-Soulier syndrome type A2
  • Aliases:
    • BSSA2
Homo sapiens (human)
DOID:2217
  • Bernard-Soulier syndrome
  • Aliases:
    • Bernard - Soulier thrombopathy
    • Bernard Soulier syndrome
    • Giant platelet syndrome
    • Hemorrhagic dystrophic thrombocytopenia
    • Thrombopathy, Bernard-Soulier
Homo sapiens (human)
DOID:2217
  • Bernard-Soulier syndrome
  • Aliases:
    • Bernard - Soulier thrombopathy
    • Bernard Soulier syndrome
    • Giant platelet syndrome
    • Hemorrhagic dystrophic thrombocytopenia
    • Thrombopathy, Bernard-Soulier
Mus musculus (house mouse)
DOID:0050663
  • Bethlem myopathy
  • Aliases:
    • benign congenital muscular dystrophy
Mus musculus (house mouse)
DOID:0050663
  • Bethlem myopathy
  • Aliases:
    • benign congenital muscular dystrophy
Homo sapiens (human)
DOID:0050675
  • Birk-Barel syndrome
  • Aliases:
    • Birk-Barel mental retardation dysmorphism syndrome
Homo sapiens (human)
DOID:0050676
  • Birt-Hogg-Dube syndrome
Homo sapiens (human)
DOID:0050678
  • Blau syndrome
  • Aliases:
    • ARTHROCUTANEOUVEAL GRANULOMATOSIS
    • BLAUS
    • Jabs syndrome
Homo sapiens (human)
DOID:2717
  • Bloom syndrome
  • Aliases:
    • Bloom-Torre-Machacek syndrome
    • Congenital Telangiectatic Erythema syndrome
Homo sapiens (human)
DOID:0050680
  • Boomerang dysplasia
Homo sapiens (human)
DOID:0050681
  • Borjeson-Forssman-Lehmann syndrome
  • Aliases:
    • BFLS
    • BORJ
    • Borjeson syndrome
    • MRXSBFL
    • intellectual deficiency-epilepsy-endocrine disorders syndrome
    • mental retardation, epilepsy, and endocrine disorder
    • syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
Homo sapiens (human)
DOID:0050683
  • Bothnia retinal dystrophy
  • Aliases:
    • Vasterbotten dystrophy
Homo sapiens (human)
DOID:0111707
  • Bothnian type palmoplantar keratoderma
  • Aliases:
    • PPKB
    • diffuse palmoplantar keratoderma, Bothnian type
Homo sapiens (human)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Homo sapiens (human)
DOID:0080785
  • Brown-Vialetto-Van Laere syndrome 1
Homo sapiens (human)
DOID:0080786
  • Brown-Vialetto-Van Laere syndrome 2
Homo sapiens (human)
DOID:0060231
  • Bruck syndrome
  • Aliases:
    • osteogenesis imperfecta with congenital joint contractures
Homo sapiens (human)
DOID:0110218
  • Brugada syndrome 1
  • Aliases:
    • BRGDA1
Mus musculus (house mouse)
DOID:0110218
  • Brugada syndrome 1
  • Aliases:
    • BRGDA1
Homo sapiens (human)
DOID:0110219
  • Brugada syndrome 2
  • Aliases:
    • BRGDA2
Homo sapiens (human)
DOID:0110220
  • Brugada syndrome 3
  • Aliases:
    • BRGDA3
Homo sapiens (human)
DOID:0110221
  • Brugada syndrome 4
  • Aliases:
    • BRGDA4
Homo sapiens (human)
DOID:0110222
  • Brugada syndrome 5
  • Aliases:
    • BRGDA5
Homo sapiens (human)
DOID:0110223
  • Brugada syndrome 6
  • Aliases:
    • BRGDA6
Homo sapiens (human)
DOID:0110224
  • Brugada syndrome 7
  • Aliases:
    • BRGDA7
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025