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 3426 - 3450 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0090037
  • torsion dystonia 13
Homo sapiens (human)
DOID:0111936
  • immunodeficiency 14
  • Aliases:
    • APDS
    • IMD14
    • PASLI disease
    • activated PI3K-delta syndrome
    • senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
Homo sapiens (human)
DOID:13593
  • eclampsia
  • Aliases:
    • Eclampsia in puerperium
    • Eclampsia, postpartum
    • Postpartum eclampsia
Homo sapiens (human)
DOID:0060252
  • sclerocornea
  • Aliases:
    • isolated congenital sclerocornea
Homo sapiens (human)
DOID:11156
  • anhidrosis
  • Aliases:
    • Adiaphoresis
    • absence of sweating
Homo sapiens (human)
DOID:0090103
  • Huntington's disease-like 1
  • Aliases:
    • HDL1
    • HLN1
    • Huntington disease-like 1
    • Huntington-like neurodegenerative disorder 1
    • autosomal dominant Huntington-like neurodegenerative disorder
    • early-onset prion disease with prominent psychiatric features
Homo sapiens (human)
DOID:0110438
  • dilated cardiomyopathy 1JJ
  • Aliases:
    • CMD1JJ
Homo sapiens (human)
DOID:0050853
  • chronic venous insufficiency
Homo sapiens (human)
DOID:5660
  • lymphoepithelioma-like carcinoma
  • Aliases:
    • Nasopharyngeal type Undifferentiated carcinoma
    • lymphoepithelial carcinoma
Homo sapiens (human)
DOID:0070030
  • ITM2B-related cerebral amyloid angiopathy 2
  • Aliases:
    • Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
    • FDD
    • Familial Danish Dementia
    • HOOE
    • Heredopathia Ophthalmootoencephalica
Homo sapiens (human)
DOID:2320
  • obstructive lung disease
  • Aliases:
    • respiratory airway obstruction
Homo sapiens (human)
DOID:0110668
  • congenital myasthenic syndrome 10
  • Aliases:
    • CMS10
    • LGM
    • congenital muscular dystrophy merosin-positive
    • familial limb-girdle myasthenia
Homo sapiens (human)
DOID:0110824
  • hereditary spastic paraplegia 9A
  • Aliases:
    • AD-SPG9A
    • Cataracts motor neuropathy-short stature-skeletal anomalies syndrome
    • SPG9A
    • autosomal dominant complex spastic paraplegia type 9A
    • autosomal dominant spastic paraplegia 9A
    • cataracts with motor neuronopathy, short stature and skeletal abnormalities
    • spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux
    • spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
Homo sapiens (human)
DOID:4464
  • collecting duct carcinoma
  • Aliases:
    • carcinoma of renal Collecting duct
    • renal Medullary carcinoma
    • renal carcinoma, collecting duct type
Homo sapiens (human)
DOID:0050440
  • familial partial lipodystrophy
  • Aliases:
    • Dunnigan Syndrome
    • Koberling-Dunnigan Syndrome
Homo sapiens (human)
DOID:13724
  • scurvy
Homo sapiens (human)
DOID:5139
  • cellular leiomyoma
Homo sapiens (human)
DOID:0080171
  • esophageal atresia/tracheoesophageal fistula
  • Aliases:
    • esophageal atresia and/or tracheoesophageal fistula
    • tracheoesophageal fistula with or without esohageal atresia
Homo sapiens (human)
DOID:439
  • neuromuscular junction disease
Homo sapiens (human)
DOID:0050889
  • non-syndromic intellectual disability
Homo sapiens (human)
DOID:0110062
  • amelogenesis imperfecta hypomaturation type 2A4
  • Aliases:
    • AI2A4
    • amelogenesis imperfecta hypomaturation type IIA4
    • amelogenesis imperfecta type IIA4
Homo sapiens (human)
DOID:2373
  • hereditary elliptocytosis
  • Aliases:
    • Congenital elliptocytosis
    • ovalocytosis
Homo sapiens (human)
DOID:2658
  • dermoid cyst
  • Aliases:
    • Dermoid choristoma
    • Dermoid tumour
    • Mature cystic teratoma
    • cystic dermoid choristoma
    • teratoma, benign
Homo sapiens (human)
DOID:743
  • dermatographia
  • Aliases:
    • dermatographic urticaria
    • dermographism
Homo sapiens (human)
DOID:3963
  • thyroid gland carcinoma
  • Aliases:
    • head and neck cancer, Thyroid
Homo sapiens (human)

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Last updated: August 19, 2024