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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 76 - 100 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0050463
  • campomelic dysplasia
  • Aliases:
    • Acampomelic Campomelic Dysplasia
Homo sapiens (human)
DOID:0050464
  • Farber lipogranulomatosis
  • Aliases:
    • Farber disease
    • N-laurylsphingosine deacylase deficiency
    • acid ceramidase deficiency
Mus musculus (house mouse)
DOID:0050465
  • Muir-Torre syndrome
Homo sapiens (human)
DOID:0050466
  • Loeys-Dietz syndrome
Mus musculus (house mouse)
DOID:0050469
  • Costello syndrome
  • Aliases:
    • FCS SYNDROME
    • Faciocutaneoskeletal Syndrome
Homo sapiens (human)
DOID:0050470
  • Donohue syndrome
  • Aliases:
    • Leprechaunism
Homo sapiens (human)
DOID:0050471
  • Carney complex
  • Aliases:
    • Carney Complex, Type 1
    • Carney Complex, Type 2
    • Carney Syndrome
    • Carney complex variant
    • LAMB Syndrome
    • NAME Syndrome
Homo sapiens (human)
DOID:0050473
  • Alstrom syndrome
Mus musculus (house mouse)
DOID:0050473
  • Alstrom syndrome
Homo sapiens (human)
DOID:0050474
  • Netherton syndrome
Mus musculus (house mouse)
DOID:0050475
  • Weill-Marchesani syndrome
  • Aliases:
    • GEMSS syndrome
    • Marchesani-Weill Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia Brachymorphia Syndrome
    • congenital mesodermal dystrophy
Mus musculus (house mouse)
DOID:0050475
  • Weill-Marchesani syndrome
  • Aliases:
    • GEMSS syndrome
    • Marchesani-Weill Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia Brachymorphia Syndrome
    • congenital mesodermal dystrophy
Homo sapiens (human)
DOID:0050476
  • Barth syndrome
  • Aliases:
    • 3-methylglutaconicaciduria type 2
    • 3-methylglutaconicaciduria type II
    • MGA Type 2
    • MGA type II
Mus musculus (house mouse)
DOID:0050477
  • Liddle syndrome
  • Aliases:
    • Liddle's syndrome
    • Pseudoaldosteronism
Homo sapiens (human)
DOID:0050477
  • Liddle syndrome
  • Aliases:
    • Liddle's syndrome
    • Pseudoaldosteronism
Mus musculus (house mouse)
DOID:0050477
  • Liddle syndrome
  • Aliases:
    • Liddle's syndrome
    • Pseudoaldosteronism
Saccharomyces cerevisiae S288C
DOID:0050489
  • multinodular goiter
Homo sapiens (human)
DOID:0050523
  • adult T-cell leukemia/lymphoma
  • Aliases:
    • ATLL
    • Adult T-cell leukemia/lymphoma (HTLV-1 positive)
    • adult T-cell leukemia
Homo sapiens (human)
DOID:0050524
  • maturity-onset diabetes of the young
  • Aliases:
    • MODY
    • Mason-type diabetes
Saccharomyces cerevisiae S288C
DOID:0050524
  • maturity-onset diabetes of the young
  • Aliases:
    • MODY
    • Mason-type diabetes
Mus musculus (house mouse)
DOID:0050524
  • maturity-onset diabetes of the young
  • Aliases:
    • MODY
    • Mason-type diabetes
Homo sapiens (human)
DOID:0050534
  • congenital stationary night blindness
  • Aliases:
    • congenital essential nyctalopia
Homo sapiens (human)
DOID:0050534
  • congenital stationary night blindness
  • Aliases:
    • congenital essential nyctalopia
Rattus norvegicus (Norway rat)
DOID:0050535
  • exudative vitreoretinopathy
  • Aliases:
    • FEVR
    • familial exudative vitreoretinopathy
Mus musculus (house mouse)
DOID:0050540
  • Charcot-Marie-Tooth disease type 3
  • Aliases:
    • DEJERINE-SOTTAS NEUROPATHY
    • DEJERINE-SOTTAS SYNDROME
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: April 7, 2025