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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 7526 - 7550 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111503
  • Li-Fraumeni syndrome 1
  • Aliases:
    • LFS1
Mus musculus (house mouse)
DOID:0111504
  • Li-Fraumeni syndrome 2
  • Aliases:
    • LFS2
Homo sapiens (human)
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
Homo sapiens (human)
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:0111507
  • Lenz-Majewski hyperostotic dwarfism
  • Aliases:
    • Lenz-Majewski syndrome
Homo sapiens (human)
DOID:0111507
  • Lenz-Majewski hyperostotic dwarfism
  • Aliases:
    • Lenz-Majewski syndrome
Drosophila melanogaster (fruit fly)
DOID:0111508
  • Torrance type platyspondylic dysplasia
  • Aliases:
    • PLSD-T
    • PLSDT
    • lethal short-limbed platyspondylic dwarfism, Torrance type
    • platyspondylic dysplasia, Torrance-Luton type
    • platyspondylic lethal skeletal dysplasia, Torrance type
    • thanatophoric dysplasia, Torrance variant
Xenopus tropicalis (tropical clawed frog)
DOID:0111508
  • Torrance type platyspondylic dysplasia
  • Aliases:
    • PLSD-T
    • PLSDT
    • lethal short-limbed platyspondylic dwarfism, Torrance type
    • platyspondylic dysplasia, Torrance-Luton type
    • platyspondylic lethal skeletal dysplasia, Torrance type
    • thanatophoric dysplasia, Torrance variant
Rattus norvegicus (Norway rat)
DOID:0111508
  • Torrance type platyspondylic dysplasia
  • Aliases:
    • PLSD-T
    • PLSDT
    • lethal short-limbed platyspondylic dwarfism, Torrance type
    • platyspondylic dysplasia, Torrance-Luton type
    • platyspondylic lethal skeletal dysplasia, Torrance type
    • thanatophoric dysplasia, Torrance variant
Homo sapiens (human)
DOID:0111508
  • Torrance type platyspondylic dysplasia
  • Aliases:
    • PLSD-T
    • PLSDT
    • lethal short-limbed platyspondylic dwarfism, Torrance type
    • platyspondylic dysplasia, Torrance-Luton type
    • platyspondylic lethal skeletal dysplasia, Torrance type
    • thanatophoric dysplasia, Torrance variant
Mus musculus (house mouse)
DOID:0111508
  • Torrance type platyspondylic dysplasia
  • Aliases:
    • PLSD-T
    • PLSDT
    • lethal short-limbed platyspondylic dwarfism, Torrance type
    • platyspondylic dysplasia, Torrance-Luton type
    • platyspondylic lethal skeletal dysplasia, Torrance type
    • thanatophoric dysplasia, Torrance variant
Xenopus laevis (African clawed frog)
DOID:0111509
  • lymphedema-distichiasis syndrome
  • Aliases:
    • LPHDST
    • lymphedema with distichiasis
Mus musculus (house mouse)
DOID:0111510
  • Marshall syndrome
  • Aliases:
    • MRSHS
    • deafness, myopia, cataract, saddle nose-Marshall type
Rattus norvegicus (Norway rat)
DOID:0111510
  • Marshall syndrome
  • Aliases:
    • MRSHS
    • deafness, myopia, cataract, saddle nose-Marshall type
Mus musculus (house mouse)
DOID:0111510
  • Marshall syndrome
  • Aliases:
    • MRSHS
    • deafness, myopia, cataract, saddle nose-Marshall type
Homo sapiens (human)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
Mus musculus (house mouse)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
Homo sapiens (human)
DOID:0111513
  • metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
  • Aliases:
    • metaphyseal dysplasia maxillary hypoplasia brachydactyly
    • metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Mus musculus (house mouse)
DOID:0111513
  • metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
  • Aliases:
    • metaphyseal dysplasia maxillary hypoplasia brachydactyly
    • metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Homo sapiens (human)
DOID:0111514
  • metatropic dysplasia
  • Aliases:
    • metatropic dwarfism
Mus musculus (house mouse)
DOID:0111517
  • autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
  • Aliases:
    • PEOA2
    • autosomal dominant progressive external ophthalmoplegia 2
Rattus norvegicus (Norway rat)
DOID:0111517
  • autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
  • Aliases:
    • PEOA2
    • autosomal dominant progressive external ophthalmoplegia 2
Homo sapiens (human)
DOID:0111517
  • autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
  • Aliases:
    • PEOA2
    • autosomal dominant progressive external ophthalmoplegia 2
Mus musculus (house mouse)
DOID:0111524
  • autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
  • Aliases:
    • PEOB5
    • autosomal recessive progressive external ophthalmoplegia 5
Homo sapiens (human)
DOID:0111526
  • Mullerian aplasia and hyperandrogenism
  • Aliases:
    • Mullerian duct failure and hyperandrogenism
    • WNT4 deficiency
Danio rerio (zebrafish)
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Last updated: December 9, 2024