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 4576 - 4600 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:3493
  • signet ring cell adenocarcinoma
  • Aliases:
    • Signet ring carcinoma
    • Signet ring cell carcinoma
Homo sapiens (human)
DOID:0111368
  • cholesterol-ester transfer protein deficiency
  • Aliases:
    • CEPT deficiency
    • familial hyperalphalipoproteinemia
Homo sapiens (human)
DOID:0111369
  • hyperalphalipoproteinemia 1
  • Aliases:
    • HALP1
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:0110698
  • hypotrichosis 1
  • Aliases:
    • Hhs
    • Hts
    • Hypt1
    • hereditary generalized hypotrichosis simplex
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:0110859
  • polycystic kidney disease 2
  • Aliases:
    • Apkd2
    • Pkd2
    • Polycystic Kidney Disease, Adult, Type II
Homo sapiens (human)
DOID:13133
  • HELLP syndrome
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:0080216
  • duodenal atresia
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:9091
  • REM sleep behavior disorder
  • Aliases:
    • REM sleep behaviour disorder
    • Rapid eye movement sleep behavior disorder
    • Rapid eye movement sleep behaviour disorder
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:0060789
  • hypomyelinating leukodystrophy 4
  • Aliases:
    • HLD4
    • MitCHAP60 disease
    • Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
    • mitochondrial HSP60 chaperonopathy
Homo sapiens (human)
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
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)
DOID:0060790
  • hypomyelinating leukodystrophy 3
  • Aliases:
    • HLD3
    • Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
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