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 8151 - 8175 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0081048
  • congenital limbs-face contractures-hypotonia-developmental delay syndrome
  • Aliases:
    • CLIFAHDD syndrome
    • congenital contractures of the limbs and face, hypotonia, and developmental delay
Homo sapiens (human)
DOID:0110222
  • Brugada syndrome 5
  • Aliases:
    • BRGDA5
Homo sapiens (human)
DOID:4330
  • non-Langerhans-cell histiocytosis
Homo sapiens (human)
DOID:3071
  • gliosarcoma
  • Aliases:
    • Glioblastoma with sarcomatous component
Homo sapiens (human)
DOID:0110297
  • autosomal recessive limb-girdle muscular dystrophy type 2K
  • Aliases:
    • LGMD2K
    • MDDGC1
    • limb-girdle muscular dystrophy-intellectual disability syndrome
    • muscular dystrophy limb-girdle type 2K
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Homo sapiens (human)
DOID:0060202
  • amyotrophic lateral sclerosis type 11
  • Aliases:
    • ALS11
    • amyotrophic lateral sclerosis 11
Homo sapiens (human)
DOID:0080108
  • myoglobinuria
Homo sapiens (human)
DOID:0080501
  • GM1 gangliosidosis type 2
  • Aliases:
    • juvenile GM1 gangliosidosis
Homo sapiens (human)
DOID:0050734
  • congenital intrinsic factor deficiency
  • Aliases:
    • hereditary intrinsic factor deficiency
Homo sapiens (human)
DOID:0050981
  • spinocerebellar ataxia type 34
Homo sapiens (human)
DOID:0112282
  • spondyloepiphyseal dysplasia Kimberley type
  • Aliases:
    • SEDK
Homo sapiens (human)
DOID:0111742
  • cerebellar ataxia type 42
  • Aliases:
    • SCA42
Homo sapiens (human)
DOID:2431
  • glomus tumor
  • Aliases:
    • Glomus neoplasm
    • Glomus tumour
Homo sapiens (human)
DOID:0110098
  • atopic dermatitis 2
  • Aliases:
    • ATOD2
Homo sapiens (human)
DOID:3512
  • neurofibrosarcoma
  • Aliases:
    • Neurosarcoma
Homo sapiens (human)
DOID:9220
  • central sleep apnea
  • Aliases:
    • primary central sleep apnea
Homo sapiens (human)
DOID:0090019
  • sitosterolemia
  • Aliases:
    • phytosterolemia
Homo sapiens (human)
DOID:0110447
  • dilated cardiomyopathy 1DD
  • Aliases:
    • CMD1DD
Homo sapiens (human)
DOID:0111239
  • congenital muscular dystrophy-dystroglycanopathy type A10
  • Aliases:
    • MDDGA10
    • Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
Homo sapiens (human)
DOID:0060366
  • Hennekam syndrome
  • Aliases:
    • Hennekam lymphangiectasia-lymphedema syndrome
    • lymphedem-lymphangiectasia-intellectual disability syndrome
Homo sapiens (human)
DOID:0070031
  • autosomal dominant intellectual developmental disorder 1
  • Aliases:
    • MRD1
    • autosomal dominant mental retardation 1
    • autosomal dominant non-syndromic intellectual disability 1
Homo sapiens (human)
DOID:856
  • biotinidase deficiency
  • Aliases:
    • BTD deficiency
    • Juvenile-onset multiple carboxylase deficiency
    • Late-onset multiple carboxylase deficiency
    • deficiency of biotinidase
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:12930
  • dilated cardiomyopathy
  • Aliases:
    • primary dilated cardiomyopathy
Homo sapiens (human)
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Homo sapiens (human)

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Last updated: December 9, 2024