GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1051 - 1075 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0090015
  • Cenani-Lenz syndactyly syndrome
  • Aliases:
    • syndactyly type 7
Homo sapiens (human)
DOID:0090016
  • chromosome 5q deletion syndrome
  • Aliases:
    • 5q- syndrome, refractory macrocytic anemia due to 5q deletion
    • myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Homo sapiens (human)
DOID:0090017
  • epidermolysis bullosa simplex with muscular dystrophy
  • Aliases:
    • epidermolysis bullosa simplex and limb-girdle muscular dystrophy
    • limb-girdle muscular dystrophy with epidermolysis bullosa simplex
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:0090020
  • split hand-foot malformation
  • Aliases:
    • lobster-claw deformity
    • split-hand deformity
Homo sapiens (human)
DOID:0090021
  • split hand-foot malformation 1
  • Aliases:
    • SHFD1
    • SHFM1
Homo sapiens (human)
DOID:0090022
  • split hand-foot malformation 5
  • Aliases:
    • SHFM5
Homo sapiens (human)
DOID:0090023
  • split hand-foot malformation 4
  • Aliases:
    • SHFM4
Homo sapiens (human)
DOID:0090024
  • split hand-foot malformation 1 with sensorineural hearing loss
  • Aliases:
    • SHFM1D
    • congenital deafness with split hands and feet
Homo sapiens (human)
DOID:0090025
  • split hand-foot malformation 3
  • Aliases:
    • SHFM3
    • chromosome 10q24 duplication syndrome
    • distal limb deficiencies with micrognathia
Homo sapiens (human)
DOID:0090026
  • split hand-foot malformation 6
  • Aliases:
    • SHFM6
Homo sapiens (human)
DOID:0090027
  • split hand-foot malformation 2
  • Aliases:
    • SHFM2
Homo sapiens (human)
DOID:0090029
  • CINCA Syndrome
  • Aliases:
    • IOMID syndrome
    • NOMID syndrome
    • Prieur-Griscelli syndrome
    • chronic infantile neurological cutaneous articular syndrome
    • chronic neurologic cutaneous and articular syndrome
    • cryopyrin-associated periodic syndrome 3
    • infantile-onset multisystem inflammatory disease
    • neonatal-onset multisystem inflammatory disease
Homo sapiens (human)
DOID:0090031
  • D-bifunctional protein deficiency
Homo sapiens (human)
DOID:0090032
  • Silverman-Handmaker type dyssegmental dysplasia
Homo sapiens (human)
DOID:0090034
  • myoclonic dystonia 11
Homo sapiens (human)
DOID:0090037
  • torsion dystonia 13
Homo sapiens (human)
DOID:0090038
  • torsion dystonia 2
Homo sapiens (human)
DOID:0090039
  • torsion dystonia 6
Homo sapiens (human)
DOID:0090041
  • torsion dystonia 4
Homo sapiens (human)
DOID:0090042
  • torsion dystonia 17
Homo sapiens (human)
DOID:0090043
  • dystonia 5
Homo sapiens (human)
DOID:0090044
  • dystonia 9
Homo sapiens (human)
DOID:0090045
  • childhood onset GLUT1 deficiency syndrome 2
Homo sapiens (human)
DOID:0090046
  • dystonia 21
Homo sapiens (human)

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Last updated: August 19, 2024