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 July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3476 - 3500 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0050949
  • autosomal recessive hypophosphatemic rickets
Homo sapiens (human)
DOID:0110698
  • hypotrichosis 1
  • Aliases:
    • Hhs
    • Hts
    • Hypt1
    • hereditary generalized hypotrichosis simplex
Homo sapiens (human)
DOID:13401
  • angioid streaks
Homo sapiens (human)
DOID:2729
  • dyskeratosis congenita
  • Aliases:
    • DKCD
Homo sapiens (human)
DOID:0070025
  • X-linked dyskeratosis congenita
  • Aliases:
    • DKCX
    • Zinsser-Cole-Engman syndrome
Homo sapiens (human)
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Homo sapiens (human)
DOID:11189
  • pulp degeneration
Homo sapiens (human)
DOID:5608
  • dental pulp calcification
  • Aliases:
    • pulp calcification
    • pulp calcifications
    • pulpal calcifications
Homo sapiens (human)
DOID:4163
  • ganglioneuroblastoma
Homo sapiens (human)
DOID:2047
  • hepatitis D
  • Aliases:
    • delta hepatitis
Homo sapiens (human)
DOID:0050827
  • rheumatic heart disease
  • Aliases:
    • rheumatic carditis
Homo sapiens (human)
DOID:5392
  • acidophil adenoma
  • Aliases:
    • Eosinophil adenoma
Homo sapiens (human)
DOID:14064
  • acute poststreptococcal glomerulonephritis
  • Aliases:
    • Post-Streptococcal Glomerulonephritis
Homo sapiens (human)
DOID:9598
  • fasciitis
Homo sapiens (human)
DOID:0060108
  • brain glioma
  • Aliases:
    • lower grade glioma
Homo sapiens (human)
DOID:0111380
  • solitary median maxillary central incisor
  • Aliases:
    • SMMCI
    • fused incisors
    • single central maxillary incisor
    • single median maxillary central incisor
    • single upper central incisor
Homo sapiens (human)
DOID:9835
  • refractive error
Homo sapiens (human)
DOID:10440
  • mycotic corneal ulcer
Homo sapiens (human)
DOID:0060787
  • hypomyelinating leukodystrophy 2
  • Aliases:
    • HLD2
    • PMLD1
    • Pelizaeus-Merzbacher-like disease 1
    • Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Homo sapiens (human)
DOID:0110961
  • atypical Gaucher's disease due to saposin c deficiency
Homo sapiens (human)
DOID:900
  • hepatopulmonary syndrome
Homo sapiens (human)
DOID:0060791
  • hypomyelinating leukodystrophy 9
  • Aliases:
    • HLD9
    • RARS-related autosomal recessive hypomyelinating leukodystrophy
Homo sapiens (human)
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Homo sapiens (human)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Homo sapiens (human)
DOID:0060798
  • hypomyelinating leukodystrophy 6
  • Aliases:
    • H-ABC
    • HABC
    • HLD6
    • hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum
    • hypomyelination with atrophy of basal ganglia and cerebellum
Homo sapiens (human)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024