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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 14476 - 14500 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080071
  • mucolipidosis III alpha/beta
  • Aliases:
    • mucolipidosis III
    • pseudo-Hurler polydystrophy
Homo sapiens (human)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Danio rerio (zebrafish)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Danio rerio (zebrafish)
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Danio rerio (zebrafish)
DOID:0110074
  • arrhythmogenic right ventricular dysplasia 5
  • Aliases:
    • ARVC5
    • ARVD5
    • arrhythmogenic right ventricular cardiomyopathy 5
    • familial arrhythmogenic right ventricular dysplasia 5
Homo sapiens (human)
DOID:0112373
  • autosomal dominant auditory neuropathy 3
  • Aliases:
    • AUNA3
Homo sapiens (human)
DOID:0070252
  • autosomal dominant Emery-Dreifuss muscular dystrophy 7
  • Aliases:
    • EDMD7
    • Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Homo sapiens (human)
DOID:0081007
  • RNASET2-deficient cystic leukoencephalopathy
  • Aliases:
    • cystic leukoencephalopathy without megalencephaly
    • infantile-onset RNASET2 deficient cystic leukoencephalopathy
Danio rerio (zebrafish)
DOID:3883
  • Lynch syndrome
  • Aliases:
    • COCA 1
    • HNPCC - hereditary nonpolyposis colon cancer
    • Hereditary Defective Mismatch Repair syndrome
    • Hereditary non-polyposis colon cancer
    • Hereditary non-polyposis colon cancer syndrome
    • Hereditary non-polyposis colorectal cancer
    • Hereditary non-polyposis colorectal cancer syndrome
    • Hereditary nonpolyposis colon cancer
    • Hereditary nonpolyposis colon cancer syndrome
    • Hereditary nonpolyposis colorectal cancer syndrome
    • hereditary nonpolyposis colorectal cancer
    • hereditary nonpolyposis colorectal neoplasm
Danio rerio (zebrafish)
DOID:5410
  • pulmonary neuroendocrine tumor
Danio rerio (zebrafish)
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Danio rerio (zebrafish)
DOID:3717
  • gastric adenocarcinoma
  • Aliases:
    • adenocarcinoma of stomach
    • stomach adenocarcinoma
Danio rerio (zebrafish)
DOID:14004
  • thoracic aortic aneurysm
Danio rerio (zebrafish)
DOID:0050073
  • invasive aspergillosis
Danio rerio (zebrafish)
DOID:0081141
  • agammaglobulinemia 9
Homo sapiens (human)
DOID:0080042
  • autosomal recessive spinocerebellar ataxia 18
  • Aliases:
    • SCAR18
Rattus norvegicus (Norway rat)
DOID:0111011
  • cone-rod dystrophy 6
  • Aliases:
    • CORD6
    • RCD2
    • retinal cone dystrophy 2
Rattus norvegicus (Norway rat)
DOID:0110078
  • Leber congenital amaurosis 1
  • Aliases:
    • LCA1
    • amaurosis congenita of Leber I
Rattus norvegicus (Norway rat)
DOID:0060363
  • glycerol kinase deficiency
Rattus norvegicus (Norway rat)
DOID:0111901
  • heparin cofactor II deficiency
  • Aliases:
    • HCF 2 deficiency
    • HCF II deficiency
    • THPH10
    • thrombophilia due to heparin cofactor II deficiency
Rattus norvegicus (Norway rat)
DOID:0050117
  • disease by infectious agent
  • Aliases:
    • infectious disease
Rattus norvegicus (Norway rat)
DOID:1891
  • optic nerve disease
  • Aliases:
    • disorder of the second nerve
    • optic nerve disorder
    • optic neuropathy
Rattus norvegicus (Norway rat)
DOID:0111442
  • optic atrophy 9
  • Aliases:
    • OPA9
Rattus norvegicus (Norway rat)
DOID:0050883
  • infantile cerebellar-retinal degeneration
Rattus norvegicus (Norway rat)
DOID:5200
  • urinary tract obstruction
  • Aliases:
    • Obstructive Uropathy
    • urinary obstruction
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024