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 5276 - 5300 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:2476
  • hereditary spastic paraplegia
  • Aliases:
    • French settlement disease
    • Strumpell-Lorrain disease
    • familial spastic paraplegia
    • hereditary spastic paraparesis
Drosophila melanogaster (fruit fly)
DOID:0050574
  • L-2-hydroxyglutaric aciduria
  • Aliases:
    • L-2-HYDROXYGLUTARIC ACIDEMIA
Drosophila melanogaster (fruit fly)
DOID:0050573
  • 2-hydroxyglutaric aciduria
Drosophila melanogaster (fruit fly)
DOID:4988
  • alcoholic pancreatitis
Drosophila melanogaster (fruit fly)
DOID:2739
  • Gilbert syndrome
  • Aliases:
    • Constitutional hyperbilirubinemia
    • Gilbert's disease
    • Gilbert's syndrome
    • Gilbert-Meulengracht syndrome
    • hereditary nonhemolytic jaundice
Drosophila melanogaster (fruit fly)
DOID:10211
  • cholelithiasis
Drosophila melanogaster (fruit fly)
DOID:11151
  • cholecystolithiasis
Drosophila melanogaster (fruit fly)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Drosophila melanogaster (fruit fly)
DOID:2741
  • bilirubin metabolic disorder
  • Aliases:
    • hereditary hyperbilirubinemia
    • hyperbilirubinemia
Drosophila melanogaster (fruit fly)
DOID:8692
  • myeloid leukemia
  • Aliases:
    • Non-Lymphocytic Leukemia
    • leukaemia myelogenous
    • leukemia myelogenous
    • myeloid granulocytic leukaemia
    • myeloid granulocytic leukemia
    • myeloid leukaemia
Drosophila melanogaster (fruit fly)
DOID:2043
  • hepatitis B
  • Aliases:
    • chronic hepatitis B
    • hepatitis B infection
Drosophila melanogaster (fruit fly)
DOID:0070028
  • APP-related cerebral amyloid angiopathy
  • Aliases:
    • Amyloidosis, Cerebroarterial, App-Related
    • Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
    • Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
    • Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
    • Cerebral Amyloid Angiopathy, App-Related, Italian Variant
    • HCHWAD
Homo sapiens (human)
DOID:0111064
  • autosomal recessive distal hereditary motor neuronopathy 1
  • Aliases:
    • DSMA1
    • SIANRF
    • SMARD1
    • autosomal recessive distal spinal muscular atrophy 1
    • autosomal recessive spinal muscular atrophy with respiratory distress
    • dHMN6
    • diaphragmatic spinal muscular atrophy
    • distal hereditary motor neuropathy type 6
    • distal spinal muscular atrophy 1
    • distal-HMN type 6
    • severe infantile axonal neuropathy with respiratory failure type 1
    • spinal muscular atrophy with respiratory distress type 1
Homo sapiens (human)
DOID:0110171
  • Charcot-Marie-Tooth disease axonal type 2S
  • Aliases:
    • CMT2S
    • Charcot-Marie-Tooth disease type 2S
    • Charcot-Marie-Tooth neuropathy type 2S
    • autosomal recessive axonal Charcot-Marie-Tooth type 2S
Homo sapiens (human)
DOID:0080154
  • short chain acyl-CoA dehydrogenase deficiency
Homo sapiens (human)
DOID:0050630
  • Aland Island eye disease
  • Aliases:
    • FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
    • Forsius-Eriksson syndrome
Drosophila melanogaster (fruit fly)
DOID:8545
  • malignant hyperthermia
  • Aliases:
    • anesthesia related hyperthermia
    • malignant hyperpyrexia due to anesthesia
Drosophila melanogaster (fruit fly)
DOID:0081350
  • congenital myopathy 18
Drosophila melanogaster (fruit fly)
DOID:0110871
  • congenital stationary night blindness 2A
  • Aliases:
    • congenital stationary night blindness 2A X-linked
Drosophila melanogaster (fruit fly)
DOID:0110220
  • Brugada syndrome 3
  • Aliases:
    • BRGDA3
Drosophila melanogaster (fruit fly)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Drosophila melanogaster (fruit fly)
DOID:0111007
  • X-linked cone-rod dystrophy 3
  • Aliases:
    • CORDX3
Drosophila melanogaster (fruit fly)
DOID:0060173
  • Timothy syndrome
Drosophila melanogaster (fruit fly)
DOID:0110649
  • long QT syndrome 8
  • Aliases:
    • LQT8
Drosophila melanogaster (fruit fly)
DOID:0050534
  • congenital stationary night blindness
  • Aliases:
    • congenital essential nyctalopia
Drosophila melanogaster (fruit fly)

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Last updated: December 9, 2024