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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 5801 - 5825 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Homo sapiens (human)
DOID:2738
  • pseudoxanthoma elasticum
  • Aliases:
    • Gronblad-Strandberg syndrome
Homo sapiens (human)
DOID:4449
  • macular retinal edema
  • Aliases:
    • macular edema
    • macular oedema
    • macular retinal oedema
Homo sapiens (human)
DOID:0080978
  • arthrogryposis multiplex congenita-1
Homo sapiens (human)
DOID:0080893
  • Bainbridge-Ropers syndrome
  • Aliases:
    • ASXL3-related disorder
Homo sapiens (human)
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Homo sapiens (human)
DOID:0060496
  • respiratory allergy
  • Aliases:
    • airway allergy
Homo sapiens (human)
DOID:0060309
  • syndromic X-linked intellectual disability
  • Aliases:
    • syndromic X-linked mental retardation
Homo sapiens (human)
DOID:0070062
  • Arboleda-Tham syndrome
  • Aliases:
    • ARTHS
    • MRD32
    • autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
    • autosomal dominant mental retardation 32
    • autosomal dominant non-syndromic intellectual disability 32
Homo sapiens (human)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Homo sapiens (human)
DOID:0050811
  • congenital adrenal hyperplasia
  • Aliases:
    • adrenal hyperplasia 1
    • congenital lipoid adrenal hyperplasia
    • lipoid CAH
Homo sapiens (human)
DOID:0080294
  • Charcot-Marie-Tooth disease dominant intermediate G
Homo sapiens (human)
DOID:0060394
  • chromosome 15q13.3 microdeletion syndrome
  • Aliases:
    • 15q13.3 microdeletion syndrome
Homo sapiens (human)
DOID:11963
  • esophagitis
  • Aliases:
    • acute esophagitis
Homo sapiens (human)
DOID:0111944
  • immunodeficiency 31B
  • Aliases:
    • IMD31B
    • autosomal recessive STAT1 deficiency
    • autosomal recessive immunodeficiency 31B, mycobacterial and viral infections
    • predisposition to severe viral infection due to STAT1 deficiency
    • susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Homo sapiens (human)
DOID:0110786
  • hereditary spastic paraplegia 35
  • Aliases:
    • FAHN
    • SPG35
    • autosomal recessive spastic paraplegia 35
    • autosomal recessive spastic paraplegia type 35
    • fatty acid hydroxylase-associated neurodegeneration
    • leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia
Homo sapiens (human)
DOID:4500
  • hypokalemia
  • Aliases:
    • hypopotassemia
    • potassium deficiency disorder
Homo sapiens (human)
DOID:0060473
  • Kabuki syndrome
  • Aliases:
    • KMS
    • Kabuki make up syndrome
    • Niikawa-Kuroki syndrome
Homo sapiens (human)
DOID:0111735
  • X-linked deafness 4
  • Aliases:
    • DFN6
    • DFNX4
    • X-linked progressive deafness 6
    • nonsyndromic sensorineural progressive deafness 6
Homo sapiens (human)
DOID:0112192
  • tetraamelia syndrome 1
  • Aliases:
    • TETAMS1
    • tetra-amelia syndrome 1
Homo sapiens (human)
DOID:0110221
  • Brugada syndrome 4
  • Aliases:
    • BRGDA4
Homo sapiens (human)
DOID:0110156
  • Charcot-Marie-Tooth disease type 2B1
  • Aliases:
    • CMT2B1
    • Charcot-Marie-Tooth disease neuronal type 2B1
    • Charcot-Marie-Tooth neuropathy type 2B1
    • autosomal recessive Charcot-Marie-Tooth disease type 2B1
    • autosomal recessive axonal CMT4C1
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
Homo sapiens (human)
DOID:0110142
  • Bartter disease type 1
  • Aliases:
    • BARTS1
    • Bartter syndrome type 1
    • Bartter syndrome type 1 antenatal
    • hyperprostaglandin E syndrome 1
    • hypokalemic alkalosis with hypercalciuria 1 antenatal
Homo sapiens (human)
DOID:0080281
  • schizophrenia 19
Homo sapiens (human)
DOID:0080419
  • developmental and epileptic encephalopathy 50
  • Aliases:
    • CDG syndrome type Iz
    • CDG-Iz
    • Carbohydrate deficient glycoprotein syndrome type Iz
    • Congenital disorder of glycosylation type 1z
    • DEE50
    • early infantile epileptic encephalopathy 50
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: December 9, 2024