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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 11176 - 11200 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Homo sapiens (human)
DOID:0111650
  • ectodermal dysplasia 13
  • Aliases:
    • ECTD13
    • ectodermal dysplasia 13, hair/tooth type
Homo sapiens (human)
DOID:0060741
  • methylmalonic acidemia due to transcobalamin receptor defect
  • Aliases:
    • methylmalonic acidemia, TCblR type
    • methylmalonic aciduria due to transcobalamin receptor defect
Homo sapiens (human)
DOID:0112115
  • combined oxidative phosphorylation deficiency 46
  • Aliases:
    • COXPD46
Homo sapiens (human)
DOID:2297
  • leptospirosis
  • Aliases:
    • Fort Bragg fever
    • Leptospirosis icterohaemorrhagica
    • Rat Catcher's Yellows
    • Weil's disease
    • nanukayami fever
    • spirochetal jaundice
Homo sapiens (human)
DOID:13884
  • sick sinus syndrome
  • Aliases:
    • sinus node infection
Homo sapiens (human)
DOID:13777
  • epidermodysplasia verruciformis
Homo sapiens (human)
DOID:10124
  • corneal disease
Homo sapiens (human)
DOID:0080952
  • AMED syndrome
  • Aliases:
    • AMEDS
Homo sapiens (human)
DOID:0070270
  • hereditary nonpolyposis colorectal cancer type 8
  • Aliases:
    • HNPCC8
Homo sapiens (human)
DOID:0112349
  • hereditary spastic paraplegia 81
  • Aliases:
    • SPG81
    • autosomal recessive complex SPG due to Kennedy pathway dysfunction
    • autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
    • spastic paraplegia 81 autosomal recessive
Homo sapiens (human)
DOID:0080353
  • X-linked recessive hypophosphatemic rickets
Homo sapiens (human)
DOID:0080059
  • autosomal recessive spinocerebellar ataxia 7
  • Aliases:
    • SCAR7
Homo sapiens (human)
DOID:0110946
  • autosomal recessive osteopetrosis 7
  • Aliases:
    • OPTB7
    • autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • autosomal recessive osteopetrosis type 7
    • osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • osteopetrosis-hypogammaglobulinemia syndrome
Homo sapiens (human)
DOID:3596
  • placental site trophoblastic tumor
  • Aliases:
    • Placental-Site Gestational Trophoblastic neoplasm
    • placental site trophoblastic tumour
Homo sapiens (human)
DOID:14250
  • Down syndrome
  • Aliases:
    • Complete trisomy 21 syndrome
    • Down's syndrome
    • Down's syndrome - trisomy 21
    • Downs syndrome
    • G Trisomy
    • trisomy 21 syndrome
Homo sapiens (human)
DOID:0111620
  • corneal dystrophy-perceptive deafness syndrome
  • Aliases:
    • CDPD
    • CDPD1
    • Harboyan syndrome
    • corneal dystrophy and perceptive deafness
    • corneal dystrophy with progressive deafness
    • corneal endothelial dystrophy and perceptive deafness
Homo sapiens (human)
DOID:0081179
  • autosomal recessive intellectual developmental disorder 3
Homo sapiens (human)
DOID:0080678
  • mucolipidosis III gamma
Homo sapiens (human)
DOID:6193
  • epithelioid sarcoma
  • Aliases:
    • epithelioid cell sarcoma
Homo sapiens (human)
DOID:10908
  • hydrocephalus
  • Aliases:
    • hydrocephalus, X-linked
    • hydrocephalus, nonsyndromic, autosomal recessive
Homo sapiens (human)
DOID:0112142
  • retinitis pigmentosa 85
  • Aliases:
    • RP85
Homo sapiens (human)
DOID:4971
  • myelofibrosis
  • Aliases:
    • Agnogenic myeloid metaplasia
    • Aleukemic myelosis
    • Megakaryocytic myelosclerosis
    • bone Marrow Fibrosis
    • myelosclerosis
    • primary myelofibrosis
Homo sapiens (human)
DOID:0111806
  • syndromic microphthalmia 5
  • Aliases:
    • MCOPS5
    • syndromic microphthalmia type 5
    • syndromic microphthalmia/anophthalmia due to OTX2 mutation
Homo sapiens (human)
DOID:6595
  • gastric tubular adenocarcinoma
  • Aliases:
    • tubular adenocarcinoma of stomach
Homo sapiens (human)
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Last updated: December 9, 2024