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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 4226 - 4250 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0081376
  • obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy
Mus musculus (house mouse)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Mus musculus (house mouse)
DOID:3390
  • palmoplantar keratosis
  • Aliases:
    • Keratosis palmaris et plantaris
    • Palmoplantar Keratoderma
    • palmo-plantar keratodermas
Homo sapiens (human)
DOID:0050428
  • nonepidermolytic palmoplantar keratoderma
  • Aliases:
    • Thost-Unna Syndrome
    • Unna-Thost Syndrome
    • diffuse nonepidermolytic palmomplantar keratoderma
    • tylosis
Homo sapiens (human)
DOID:0060718
  • autosomal recessive congenital ichthyosis 9
  • Aliases:
    • ARCI9
Homo sapiens (human)
DOID:0060715
  • autosomal recessive congenital ichthyosis 6
  • Aliases:
    • ARCI6
Homo sapiens (human)
DOID:0060711
  • autosomal recessive congenital ichthyosis 3
  • Aliases:
    • ARCI3
    • lamellar ichthyosis 5
Homo sapiens (human)
DOID:0060716
  • autosomal recessive congenital ichthyosis 7
  • Aliases:
    • ARCI7
Homo sapiens (human)
DOID:0060717
  • autosomal recessive congenital ichthyosis 8
  • Aliases:
    • ARCI8
    • lamellar ichthyosis 4
    • late-onset lamellar ichthyosis
Homo sapiens (human)
DOID:0060712
  • autosomal recessive congenital ichthyosis 4A
  • Aliases:
    • ARCI4A
    • ICR2B
    • ichthyosis congenita IIB
    • lamellar ichthyosis 2
Homo sapiens (human)
DOID:0060710
  • autosomal recessive congenital ichthyosis 2
  • Aliases:
    • ARCI2
    • BROCQ congenital ichthyosiform erythroderma nonbullous form
    • NCIE1
    • nonbullous congenital ichthyosiform erythroderma 1
Homo sapiens (human)
DOID:0060719
  • autosomal recessive congenital ichthyosis 10
  • Aliases:
    • ARCI10
Homo sapiens (human)
DOID:0050475
  • Weill-Marchesani syndrome
  • Aliases:
    • GEMSS syndrome
    • Marchesani-Weill Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia Brachymorphia Syndrome
    • congenital mesodermal dystrophy
Homo sapiens (human)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Mus musculus (house mouse)
DOID:0080414
  • developmental and epileptic encephalopathy 15
  • Aliases:
    • DEE15
    • early infantile epileptic encephalopathy 15
Mus musculus (house mouse)
DOID:0060470
  • salt and pepper syndrome
  • Aliases:
    • salt & pepper syndrome
    • salt-and-pepper syndrome
Mus musculus (house mouse)
DOID:11342
  • arcus senilis
  • Aliases:
    • Arcus of cornea
    • corneal arcus
Homo sapiens (human)
DOID:9266
  • cystinuria
Mus musculus (house mouse)
DOID:0070112
  • Niemann-Pick disease type B
Mus musculus (house mouse)
DOID:0070111
  • Niemann-Pick disease type A
Mus musculus (house mouse)
DOID:893
  • Wilson disease
  • Aliases:
    • Cerebral pseudosclerosis
    • Westphal pseudosclerosis
    • Westphal-Strumpell syndrome
    • Wilson's disease
    • hepatolenticular degeneration
Mus musculus (house mouse)
DOID:1245
  • vulva cancer
  • Aliases:
    • Ca vulva
    • Vulvar tumor
    • malignant Vulvar tumor
    • malignant neoplasm of vulva
    • malignant tumor of vulva
    • neoplasm of vulva
    • vulval cancer
    • vulval neoplasm
    • vulvar neoplasm
Homo sapiens (human)
DOID:13482
  • Proteus syndrome
  • Aliases:
    • Wiedemann's syndrome
Homo sapiens (human)
DOID:0081002
  • Cowden syndrome 6
Homo sapiens (human)
DOID:0080567
  • congenital disorder of glycosylation Ip
  • Aliases:
    • congenital disorder of glycosylation 1p
Mus musculus (house mouse)
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Last updated: August 19, 2024