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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 14826 - 14850 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0111935
  • immunodeficiency 16
  • Aliases:
    • IMD16
    • OX40 deficiency
    • combined immunodeficiency due to OX40 deficiency
    • combined immunodeficiency with childhood-onset Kaposi sarcoma
    • combined immunodeficiency with impaired immunity to HHV-8
    • combined immunodeficiency with impaired immunity to human herpes virus 8
Mus musculus (house mouse)
DOID:0080631
  • Elsahy-Waters syndrome
  • Aliases:
    • branchioskeletogenital syndrome
Homo sapiens (human)
DOID:12783
  • migraine without aura
  • Aliases:
    • common migraine
Drosophila melanogaster (fruit fly)
DOID:1614
  • male breast cancer
  • Aliases:
    • malignant neoplasm of male breast
    • neoplasm of male breast
Homo sapiens (human)
DOID:9008
  • psoriatic arthritis
  • Aliases:
    • arthritis psoriatica
    • arthropathic psoriasis
Rattus norvegicus (Norway rat)
DOID:0110861
  • autosomal recessive polycystic kidney disease
  • Aliases:
    • Arpkd
    • Pkhd1
    • Polycystic Kidney Disease, Infantile, Type I
    • Polycystic Kidney and Hepatic Disease 1
Homo sapiens (human)
DOID:0080404
  • orofacial cleft 11
  • Aliases:
    • nonsyndromic cleft lip with or without cleft palate 11
Homo sapiens (human)
DOID:0070235
  • Loeys-Dietz syndrome 1
  • Aliases:
    • AAT5
    • Furlong syndrome
    • LDS1
    • familial throacic aortic aneurysm 5
Caenorhabditis elegans
DOID:0060389
  • chromosome 10q23 deletion syndrome
Caenorhabditis elegans
DOID:0050978
  • spinocerebellar ataxia type 29
Rattus norvegicus (Norway rat)
DOID:0111404
  • Jalili syndrome
  • Aliases:
    • Cone rod dystrophy-amelogenesis imperfecta syndrome
    • cone-rod dystrophy and amelogenesis imperfecta
Rattus norvegicus (Norway rat)
DOID:0080676
  • Stickler syndrome 1
Rattus norvegicus (Norway rat)
DOID:0050790
  • fibular hypoplasia and complex brachydactyly
  • Aliases:
    • Du Pan syndrome
    • acromesomelic dysplasia-2B
Mus musculus (house mouse)
DOID:0081319
  • multiple synostoses syndrome 3
Rattus norvegicus (Norway rat)
DOID:543
  • dystonia
  • Aliases:
    • dystonic disease
Caenorhabditis elegans
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Mus musculus (house mouse)
DOID:0111506
  • palmoplantar keratoderma-esophageal carcinoma syndrome
  • Aliases:
    • Bennion-Patterson syndrome
    • Howell-Evans syndrome
    • TOC
    • keratosis palmaris et plantaris with esophageal cancer
    • keratosis palmoplantaris-esophageal carcinoma syndrome
    • palmoplantar hyperkeratosis-esophageal carcinoma syndrome
    • palmoplantar keratoderma with esophageal cancer
    • tylosis with esophageal cancer
    • tylosis-oesophageal carcinoma syndrome
Mus musculus (house mouse)
DOID:768
  • retinoblastoma
  • Aliases:
    • RB
    • RB - Retinoblastoma
    • neuroblastoma of Retina
Rattus norvegicus (Norway rat)
DOID:13133
  • HELLP syndrome
Homo sapiens (human)
DOID:0110993
  • Joubert syndrome 24
  • Aliases:
    • JBTS24
Mus musculus (house mouse)
DOID:0110063
  • amelogenesis imperfecta hypomaturation type 2A5
  • Aliases:
    • AI2A5
    • amelogenesis imperfecta hypomaturation type IIA5
    • amelogenesis imperfecta type IIA5
Mus musculus (house mouse)
DOID:0110635
  • muscular dystrophy-dystroglycanopathy type B5
  • Aliases:
    • FKRP-related congenital muscular dystrophy
    • MDC1C
    • MDDGB5
    • congenital muscular dystrophy 1C
    • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
    • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Xenopus tropicalis (tropical clawed frog)
DOID:552
  • pneumonia
  • Aliases:
    • acute pneumonia
Homo sapiens (human)
DOID:0080380
  • nephrotic syndrome type 5
  • Aliases:
    • nephrotic syndrome type 5, with or without ocular abnormalities
Mus musculus (house mouse)
DOID:8488
  • polyhydramnios
Mus musculus (house mouse)
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Last updated: December 9, 2024