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 12651 - 12675 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:3996
  • urinary system cancer
Homo sapiens (human)
DOID:0112192
  • tetraamelia syndrome 1
  • Aliases:
    • TETAMS1
    • tetra-amelia syndrome 1
Homo sapiens (human)
DOID:0111526
  • Mullerian aplasia and hyperandrogenism
  • Aliases:
    • Mullerian duct failure and hyperandrogenism
    • WNT4 deficiency
Homo sapiens (human)
DOID:0060766
  • autosomal dominant Robinow syndrome 1
  • Aliases:
    • DRS1
Homo sapiens (human)
DOID:0090067
  • Fuhrmann syndrome
Homo sapiens (human)
DOID:0112181
  • Schinzel type phocomelia
  • Aliases:
    • AARRS
    • Al Awadi-Raas-Rothschild syndrome
    • Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
    • LPHAS
    • Schinzel phocomelia syndrome
    • absence of ulna and fibula with severe limb deficiency
    • aplasia/hypoplasia of limbs and pelvis
    • congenital absence of ulna and fibula
    • limb/pelvis-hypoplasia/aplasia syndrome
    • severe limb deficit
Homo sapiens (human)
DOID:1618
  • breast fibroadenoma
  • Aliases:
    • Complex Fibroadenoma of breast
    • Fibroadenoma of breast
    • Juvenile fibroadenoma
    • cellular Fibroadenoma
    • fibroadenoma
    • juvenile fibroadenoma of breast
Homo sapiens (human)
DOID:0081126
  • DeSanto-Shinawi syndrome
  • Aliases:
    • Chromosome 10p12-p11 deletion syndrome
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
    • WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Mus musculus (house mouse)
DOID:0081207
  • autosomal recessive intellectual developmental disorder 43
Mus musculus (house mouse)
DOID:0080262
  • autosomal recessive nonsyndromic deafness 107
Mus musculus (house mouse)
DOID:0070295
  • primary autosomal dominant microcephaly 18
  • Aliases:
    • MCPH18
Mus musculus (house mouse)
DOID:2935
  • Chediak-Higashi syndrome
  • Aliases:
    • CHS
    • Chediak - Steinbrinck anomaly
Mus musculus (house mouse)
DOID:0111675
  • neurooculocardiogenitourinary syndrome
  • Aliases:
    • NOCGUS
Mus musculus (house mouse)
DOID:0050569
  • Seckel syndrome
  • Aliases:
    • Harper's syndrome
    • Virchow-Seckel dwarfism
    • bird-headed dwarfism
    • microcephalic primordial dwarfism
Mus musculus (house mouse)
DOID:0081051
  • microcephaly, growth deficiency, seizures, and brain malformations
Mus musculus (house mouse)
DOID:0110739
  • neurodegeneration with brain iron accumulation 5
  • Aliases:
    • BPAN
    • Beta-Propeller Protein-Associated Neurodegeneration
    • NBIA5
    • SENDA
    • Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Rattus norvegicus (Norway rat)
DOID:0110739
  • neurodegeneration with brain iron accumulation 5
  • Aliases:
    • BPAN
    • Beta-Propeller Protein-Associated Neurodegeneration
    • NBIA5
    • SENDA
    • Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Mus musculus (house mouse)
DOID:0080584
  • autosomal dominant Wolfram syndrome
Mus musculus (house mouse)
DOID:0110241
  • cataract 41
  • Aliases:
    • CTRCT41
    • congenital nuclear type cataract 41
Mus musculus (house mouse)
DOID:0110584
  • autosomal dominant nonsyndromic deafness 6
  • Aliases:
    • DFNA14
    • DFNA38
    • DFNA6
    • autosomal dominant deafness 14
    • autosomal dominant deafness 38
    • autosomal dominant deafness 6
Mus musculus (house mouse)
DOID:0111441
  • optic atrophy 1
  • Aliases:
    • OPA1
Mus musculus (house mouse)
DOID:0110629
  • Wolfram syndrome 1
  • Aliases:
    • DIDMOAD
    • WFS1
    • diabetes mellitus AND insipidus with optic atrophy AND deafness
Mus musculus (house mouse)
DOID:10632
  • Wolfram syndrome
  • Aliases:
    • WFS
Mus musculus (house mouse)
DOID:0070155
  • hereditary sensory and autonomic neuropathy type 2A
  • Aliases:
    • HSAN2A
    • hereditary sensory and autonomic neuropathy type IIA
Rattus norvegicus (Norway rat)
DOID:0070155
  • hereditary sensory and autonomic neuropathy type 2A
  • Aliases:
    • HSAN2A
    • hereditary sensory and autonomic neuropathy type IIA
Mus musculus (house mouse)

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Last updated: December 9, 2024