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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 13326 - 13350 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:14671
  • multiple intestinal atresia
  • Aliases:
    • GIDID
    • Multiple gastrointestinal atresias
    • familial intestinal polyatresia syndrome
    • gastrointestinal defects and immunodeficiency syndrome
Homo sapiens (human)
DOID:0090124
  • neurogenic-type arthrogryposis multiplex congenita-2
  • Aliases:
    • AMC neurogenic type
    • AMC2
    • AMCN
    • arthrogryposis multiplex congenita 2, neurogenic type
    • arthrogryposis multiplex congenita neurogenic type
Homo sapiens (human)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Danio rerio (zebrafish)
DOID:0050802
  • Ehlers-Danlos syndrome spondylodysplastic type 2
  • Aliases:
    • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
    • Ehlers-Danlos syndrome progeroid type
Danio rerio (zebrafish)
DOID:0110109
  • atrial heart septal defect 4
  • Aliases:
    • ASD4
    • atrial septal defect 4
Mus musculus (house mouse)
DOID:0080845
  • omodysplasia 2
Mus musculus (house mouse)
DOID:10460
  • nasopharyngitis
  • Aliases:
    • chronic nasopharyngitis
Homo sapiens (human)
DOID:0110876
  • holoprosencephaly 7
  • Aliases:
    • HPE7
Homo sapiens (human)
DOID:5522
  • basaloid squamous cell carcinoma
  • Aliases:
    • Basaloid carcinoma
Homo sapiens (human)
DOID:0070365
  • nevoid basal cell carcinoma syndrome 1
  • Aliases:
    • basal cell nevus syndrome 1
Homo sapiens (human)
DOID:0060867
  • macrocephaly-autism syndrome
  • Aliases:
    • macrocephaly-intellectual disability-autism syndrome
Homo sapiens (human)
DOID:0080191
  • PTEN hamartoma tumor syndrome
Homo sapiens (human)
DOID:1192
  • peripheral nervous system neoplasm
  • Aliases:
    • neoplasm of peripheral nerve
    • nerve sheath neoplasm
    • tumor of PNS
Homo sapiens (human)
DOID:6457
  • Cowden syndrome
  • Aliases:
    • Cowden disease
    • Lhermitte-Duclos disease
    • dysplastic Gangliocytoma of Cerebellum
Homo sapiens (human)
DOID:0050657
  • Bannayan-Riley-Ruvalcaba syndrome
  • Aliases:
    • Bannayan-Zonana syndrome
    • Cowden syndrome 1
    • Riley-Smith syndrome
    • Ruvalcaba-Myhre-Smith syndrome
Homo sapiens (human)
DOID:3742
  • bladder squamous cell carcinoma
  • Aliases:
    • Epidermoid carcinoma of the urinary bladder
    • squamous cell carcinoma of bladder
Homo sapiens (human)
DOID:0111579
  • asthma, nasal polyps, and aspirin intolerance
  • Aliases:
    • ASA triad
Homo sapiens (human)
DOID:0060370
  • Parkinson's disease 7
  • Aliases:
    • autosomal recessive early-onset Parkinson disease 7
    • autosomal recessive early-onset Parkinson's disease 7
Mus musculus (house mouse)
DOID:0110167
  • Charcot-Marie-Tooth disease axonal type 2K
  • Aliases:
    • ARCMT2K
    • Charcot-Marie-Tooth neuropathy axonal type 2K
    • autosomal recessive Charcot-Marie-Tooth disease with hoarseness
    • autosomal recessive axonal CMT4C4
    • autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Mus musculus (house mouse)
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Mus musculus (house mouse)
DOID:0080491
  • cerebral cavernous malformation 1
Homo sapiens (human)
DOID:0111404
  • Jalili syndrome
  • Aliases:
    • Cone rod dystrophy-amelogenesis imperfecta syndrome
    • cone-rod dystrophy and amelogenesis imperfecta
Drosophila melanogaster (fruit fly)
DOID:0060884
  • renal hypomagnesemia 6
  • Aliases:
    • HOMG6
Drosophila melanogaster (fruit fly)
DOID:0050564
  • autosomal dominant nonsyndromic deafness
  • Aliases:
    • autosomal dominant deafness
Drosophila melanogaster (fruit fly)
DOID:0050454
  • periventricular nodular heterotopia
  • Aliases:
    • periventricular heterotopia
Drosophila melanogaster (fruit fly)
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Last updated: December 9, 2024