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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 14726 - 14750 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110513
  • autosomal recessive nonsyndromic deafness 61
  • Aliases:
    • DFNB61
    • autosomal recessive deafness 61
Rattus norvegicus (Norway rat)
DOID:0111923
  • spermatogenic failure 42
  • Aliases:
    • SPGF42
Homo sapiens (human)
DOID:0060649
  • congenital hereditary endothelial dystrophy of cornea
  • Aliases:
    • CHED
Homo sapiens (human)
DOID:0111620
  • corneal dystrophy-perceptive deafness syndrome
  • Aliases:
    • CDPD
    • CDPD1
    • Harboyan syndrome
    • corneal dystrophy and perceptive deafness
    • corneal dystrophy with progressive deafness
    • corneal endothelial dystrophy and perceptive deafness
Homo sapiens (human)
DOID:0111723
  • Jacobsen Syndrome
  • Aliases:
    • Jacobsen distal 11q deletion syndrome
    • chromosome 11q deletion syndrome
    • partial 11q monosomy syndrome
Mus musculus (house mouse)
DOID:0110735
  • neurodegeneration with brain iron accumulation 2a
  • Aliases:
    • INAD1
    • Infantile Neuroaxonal Dystrophy 1
    • NBIA2a
    • Neurodegeneration, Pla2g6-Associated
    • Seitelberger Disease
Homo sapiens (human)
DOID:0110736
  • neurodegeneration with brain iron accumulation 2b
  • Aliases:
    • NBIA2b
    • Neuroaxonal Dystrophy, Atypical
    • Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Homo sapiens (human)
DOID:0090056
  • dystonia 12
Homo sapiens (human)
DOID:0060900
  • Parkinson's disease 14
  • Aliases:
    • Dystonia-Parkinsonism Adult-Onset
    • autosomal recessive Parkinson disease 14
    • autosomal recessive Parkinson's disease 14
Homo sapiens (human)
DOID:0111650
  • ectodermal dysplasia 13
  • Aliases:
    • ECTD13
    • ectodermal dysplasia 13, hair/tooth type
Homo sapiens (human)
DOID:0110644
  • long QT syndrome 1
  • Aliases:
    • LQT1
    • ventricular fibrillation with prolonged QT interval
Rattus norvegicus (Norway rat)
DOID:14400
  • capillary leak syndrome
Rattus norvegicus (Norway rat)
DOID:0080771
  • beta-thalassemia major
  • Aliases:
    • Cooley's anemia
Rattus norvegicus (Norway rat)
DOID:14757
  • Ehlers-Danlos syndrome hypermobility type
  • Aliases:
    • Ehlers-Danlos syndrome, type 3
    • type III Ehlers-Danlos syndrome
Rattus norvegicus (Norway rat)
DOID:14756
  • vascular type Ehlers-Danlos syndrome
  • Aliases:
    • autosomal dominant type IV Ehlers-Danlos syndrome
Rattus norvegicus (Norway rat)
DOID:0111650
  • ectodermal dysplasia 13
  • Aliases:
    • ECTD13
    • ectodermal dysplasia 13, hair/tooth type
Mus musculus (house mouse)
DOID:0111305
  • familial febrile seizures 4
  • Aliases:
    • FEB4
    • familial febrile convulsions 4
Homo sapiens (human)
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Homo sapiens (human)
DOID:0111839
  • congenital disorder of glycosylation Icc
  • Aliases:
    • congenital disorder of glycosylation type Icc
Homo sapiens (human)
DOID:0060545
  • Hermansky-Pudlak syndrome 7
Homo sapiens (human)
DOID:0111919
  • spermatogenic failure 38
  • Aliases:
    • SPGF38
Homo sapiens (human)
DOID:0111169
  • subcortical band heterotopia
  • Aliases:
    • HeCo
    • band heterotopia
    • double cortex syndrome
    • heterotopic cortex
    • subcortical laminar heterotopia
Homo sapiens (human)
DOID:0110365
  • retinitis pigmentosa 28
  • Aliases:
    • RP28
Homo sapiens (human)
DOID:0111555
  • Alkuraya-Kucinskas syndrome
  • Aliases:
    • ALKKUCS
Homo sapiens (human)
DOID:0112249
  • GAPO syndrome
  • Aliases:
    • growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Homo sapiens (human)
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Last updated: December 9, 2024