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 4126 - 4150 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0080944
  • familial Behcet-like autoinflammatory syndrome
  • Aliases:
    • A20 haploinsufficiency
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:13452
  • scleritis
Homo sapiens (human)
DOID:14550
  • root resorption
Homo sapiens (human)
DOID:0110581
  • autosomal dominant nonsyndromic deafness 56
  • Aliases:
    • DFNA56
    • autosomal dominant deafness 56
Homo sapiens (human)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Homo sapiens (human)
DOID:0110527
  • autosomal recessive nonsyndromic deafness 8
  • Aliases:
    • DFNB10
    • DFNB8
    • NRSD8
    • autosomal recessive deafness 10
    • autosomal recessive deafness 8
    • childhood-onset neurosensory autosomal recessive deafness 8
    • neurosensory nonsyndromic recessive deafness 8
Homo sapiens (human)
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Homo sapiens (human)
DOID:0110136
  • Bardet-Biedl syndrome 14
  • Aliases:
    • BBS14
Homo sapiens (human)
DOID:1088
  • meningocele
Homo sapiens (human)
DOID:0111589
  • COACH syndrome
  • Aliases:
    • Gentile syndrome
    • JS-H
    • Joubert syndrome with congenital hepatic fibrosis
    • Joubert syndrome with hepatic defect
    • cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
Homo sapiens (human)
DOID:0070117
  • Meckel syndrome 3
  • Aliases:
    • MKS3
    • Meckel-Gruber syndrome, type 3
Homo sapiens (human)
DOID:0111118
  • nephronophthisis 11
  • Aliases:
    • NPHP11
Homo sapiens (human)
DOID:1573
  • communicating hydrocephalus
Homo sapiens (human)
DOID:0111001
  • Joubert syndrome 6
  • Aliases:
    • JBTS6
Homo sapiens (human)
DOID:0070456
  • hereditary spastic paraplegia 87
  • Aliases:
    • SPG87
    • autosomal recessive spastic paraplegia 87
Homo sapiens (human)
DOID:0070400
  • hypomyelinating leukodystrophy 19
  • Aliases:
    • HLD19
Homo sapiens (human)
DOID:0110074
  • arrhythmogenic right ventricular dysplasia 5
  • Aliases:
    • ARVC5
    • ARVD5
    • arrhythmogenic right ventricular cardiomyopathy 5
    • familial arrhythmogenic right ventricular dysplasia 5
Homo sapiens (human)
DOID:0112373
  • autosomal dominant auditory neuropathy 3
  • Aliases:
    • AUNA3
Homo sapiens (human)
DOID:0070252
  • autosomal dominant Emery-Dreifuss muscular dystrophy 7
  • Aliases:
    • EDMD7
    • Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Homo sapiens (human)
DOID:4501
  • orofaciodigital syndrome
  • Aliases:
    • oral-facial-digital syndrome
Homo sapiens (human)
DOID:0110989
  • Joubert syndrome 20
  • Aliases:
    • JBTS20
Homo sapiens (human)
DOID:0070268
  • congenital disorder of glycosylation type IIp
  • Aliases:
    • CDG IIp
    • CDG syndrome type IIp
    • CDG2P
    • CDGIIdp
    • Carbohydrate deficient glycoprotein syndrome type IIp
    • Congenital disorder of glycosylation type 2p
    • TMEM199-CDG
Homo sapiens (human)
DOID:0070263
  • congenital disorder of glycosylation type IIk
  • Aliases:
    • CDG IIk
    • CDG syndrome type IIk
    • CDG2K
    • CDGIIdk
    • Carbohydrate deficient glycoprotein syndrome type IIk
    • Congenital disorder of glycosylation type 2k
    • TMEM165-CDG
Homo sapiens (human)

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Last updated: December 9, 2024