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 11826 - 11850 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Homo sapiens (human)
DOID:0110581
  • autosomal dominant nonsyndromic deafness 56
  • Aliases:
    • DFNA56
    • autosomal dominant deafness 56
Homo sapiens (human)
DOID:14550
  • root resorption
Homo sapiens (human)
DOID:13452
  • scleritis
Homo sapiens (human)
DOID:0050642
  • hypochromic microcytic anemia
Homo sapiens (human)
DOID:14453
  • farmer's lung
  • Aliases:
    • Farmers lung
    • farmer lung
Homo sapiens (human)
DOID:0080944
  • familial Behcet-like autoinflammatory syndrome
  • Aliases:
    • A20 haploinsufficiency
Homo sapiens (human)
DOID:0081365
  • Paget's disease of bone 2
  • Aliases:
    • Paget disease of bone-2
Homo sapiens (human)
DOID:0111542
  • familial expansile osteolysis
  • Aliases:
    • FEO
    • McCabe disease
    • hereditary expansile polyostotic osteolytic dysplasia
Homo sapiens (human)
DOID:0110946
  • autosomal recessive osteopetrosis 7
  • Aliases:
    • OPTB7
    • autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • autosomal recessive osteopetrosis type 7
    • osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • osteopetrosis-hypogammaglobulinemia syndrome
Homo sapiens (human)
DOID:0081368
  • Paget's disease of bone 5
  • Aliases:
    • Familial osteoectasia
    • Hereditary hyperphosphatasia
    • Hyperostosis corticalis deformans juvenilis
    • Juvenile Paget disease
    • Paget disease of bone-5
Homo sapiens (human)
DOID:0081145
  • common variable immunodeficiency 2
Homo sapiens (human)
DOID:0081147
  • common variable immunodeficiency 4
Homo sapiens (human)
DOID:0050157
  • cryptogenic organizing pneumonia
  • Aliases:
    • BOOP
    • Cryptogenic organising pneumonitis
    • Cryptogenic organizing pneumonitis
    • bronchiolitis obliterans organising pneumonia
    • bronchiolitis obliterans organizing pneumonia
    • cryptogenic organising pneumonia
    • idiopathic bronchiolitis obliterans with organising pneumonia
    • idiopathic bronchiolitis obliterans with organizing pneumonia
Homo sapiens (human)
DOID:0090018
  • autosomal dominant familial periodic fever
  • Aliases:
    • FHF
    • FPF
    • TNF receptor associated periodic syndrome
    • TRAPS
    • familial Hibernian fever
    • hibernian fever
    • tumor necrosis factor receptor associated periodic syndrome
Homo sapiens (human)
DOID:0111935
  • immunodeficiency 16
  • Aliases:
    • IMD16
    • OX40 deficiency
    • combined immunodeficiency due to OX40 deficiency
    • combined immunodeficiency with childhood-onset Kaposi sarcoma
    • combined immunodeficiency with impaired immunity to HHV-8
    • combined immunodeficiency with impaired immunity to human herpes virus 8
Homo sapiens (human)
DOID:0110943
  • autosomal recessive osteopetrosis 2
  • Aliases:
    • OPTB2
    • mild autosomal recessive form osteopetrosis
    • osteoclast-poor osteopetrosis
Homo sapiens (human)
DOID:0110896
  • inflammatory bowel disease 16
  • Aliases:
    • IBD16
Homo sapiens (human)
DOID:0081216
  • autosomal recessive intellectual developmental disorder 54
Homo sapiens (human)
DOID:0110313
  • hypertrophic cardiomyopathy 7
  • Aliases:
    • CMH7
    • cardiomyopathy, familial hypertrophic 7
Homo sapiens (human)
DOID:0111425
  • restrictive cardiomyopathy 1
  • Aliases:
    • RCM1
    • familial restrictive cardiomyopathy 1
Homo sapiens (human)
DOID:0110459
  • dilated cardiomyopathy 1FF
  • Aliases:
    • CMD1FF
Homo sapiens (human)
DOID:0110460
  • dilated cardiomyopathy 2A
  • Aliases:
    • CMD2A
Homo sapiens (human)
DOID:0081262
  • intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Homo sapiens (human)
DOID:0111696
  • familial adult myoclonic epilepsy 6
  • Aliases:
    • BAFME6
    • FAME6
    • FCMTE6
    • benign adult familial myoclonic epilepsy 6
    • familial cortical myoclonic tremor and epilepsy 6
Homo sapiens (human)

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Last updated: December 9, 2024