GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1151 - 1175 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:4692
  • endophthalmitis
Homo sapiens (human)
DOID:5769
  • verruciform xanthoma of skin
  • Aliases:
    • Cutaneous Verruciform Xanthoma
    • Verruciform xanthoma
Homo sapiens (human)
DOID:0111822
  • CHILD syndrome
  • Aliases:
    • CHILD nevus
    • congenital hemidysplasia with ichthyosiform nevus and limbs defects
Homo sapiens (human)
DOID:0111898
  • CK syndrome
  • Aliases:
    • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Homo sapiens (human)
DOID:0111162
  • epidermal nevus
  • Aliases:
    • nonepidermolytic keratinocytic nevus
Homo sapiens (human)
DOID:4137
  • common bile duct disease
Mus musculus (house mouse)
DOID:1852
  • intrahepatic cholestasis
  • Aliases:
    • neonatal intrahepatic cholestasis
Mus musculus (house mouse)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Mus musculus (house mouse)
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Mus musculus (house mouse)
DOID:9273
  • citrullinemia
  • Aliases:
    • ASS deficiency
    • deficiency of citrulline-aspartate ligase
Mus musculus (house mouse)
DOID:3659
  • sialuria
Mus musculus (house mouse)
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Mus musculus (house mouse)
DOID:0111843
  • Paganini-Miozzo syndrome
  • Aliases:
    • MRXSPM
Mus musculus (house mouse)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Mus musculus (house mouse)
DOID:3911
  • progeria
  • Aliases:
    • HGPS
    • Hutchinson Gilford syndrome
    • Hutchinson-Gilford Progeria syndrome
    • Hutchinson-Gilford disease
Mus musculus (house mouse)
DOID:0080141
  • mosaic variegated aneuploidy syndrome 1
Homo sapiens (human)
DOID:0080899
  • lung pleomorphic carcinoma
Rattus norvegicus (Norway rat)
DOID:0110403
  • retinitis pigmentosa 13
  • Aliases:
    • RP13
Homo sapiens (human)
DOID:0112237
  • lissencephaly 1
  • Aliases:
    • LIS1
    • PAFAH1B1-related lissencephaly
Homo sapiens (human)
DOID:0060432
  • chromosome 17p13.3 duplication syndrome
  • Aliases:
    • 17p13.3 duplication syndrome
    • 17p13.3 microduplication syndrome
    • chromosome 17p13.3 centromeric duplication syndrome
    • trisomy 17p13.3
Homo sapiens (human)
DOID:0060763
  • X-linked juvenile retinoschisis 1
  • Aliases:
    • X-linked juvenile retinoschisis
    • X-linked retinoschisis
    • XLRS
Homo sapiens (human)
DOID:11427
  • endosalpingiosis
Homo sapiens (human)
DOID:3437
  • laryngitis
Homo sapiens (human)
DOID:0070519
  • early-onset vitamin B6-dependent epilepsy 4
  • Aliases:
    • AASA dehydrogenase deficiency
    • EPEO4
    • PDE-ALDH7A1
    • antiquitin deficiency
Homo sapiens (human)
DOID:0080543
  • hyperprolinemia type 2
  • Aliases:
    • hyperprolinemia type II
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024