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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 12426 - 12450 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0040089
  • autoimmune optic neuritis
Homo sapiens (human)
DOID:0050433
  • fatal familial insomnia
Homo sapiens (human)
DOID:0110165
  • Charcot-Marie-Tooth disease type 2E
  • Aliases:
    • CMT2E
    • Charcot-Marie-Tooth neuropathy type 2E
    • autosomal dominant Charcot-Marie-Tooth disease type 2E
Homo sapiens (human)
DOID:643
  • progressive multifocal leukoencephalopathy
Homo sapiens (human)
DOID:0110149
  • Charcot-Marie-Tooth disease type 1F
  • Aliases:
    • CMT1F
    • Charcot-Marie-Tooth neuropathy type 1F
Homo sapiens (human)
DOID:0080294
  • Charcot-Marie-Tooth disease dominant intermediate G
Homo sapiens (human)
DOID:0081378
  • amyotrophic lateral sclerosis type 24
Homo sapiens (human)
DOID:0110092
  • short-rib thoracic dysplasia 6 with or without polydactyly
  • Aliases:
    • Majewski syndrome
    • SRPS2A
    • SRTD6
    • polydactyly with neonatal chondrodystrophy, type II
    • short rib-polydactyly syndrome type IIA
Homo sapiens (human)
DOID:3343
  • glycoproteinosis
  • Aliases:
    • Mucolipidosis type I
    • sialidosis
Homo sapiens (human)
DOID:0080488
  • mucolipidosis
Homo sapiens (human)
DOID:0060178
  • familial hemiplegic migraine
Homo sapiens (human)
DOID:0111558
  • Charcot-Marie-Tooth disease type 2DD
  • Aliases:
    • ATP1A1-related CMT2
    • ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
    • CMT2DD
    • Charcot-Marie-Tooth disease, axonal, type 2DD
    • Charcot-Marie-Tooth neuropathy, type 2DD
Homo sapiens (human)
DOID:0111253
  • neurofibromatosis 1
  • Aliases:
    • NF1
    • Peripheral Neurofibromatosis
    • Recklinghausen's neurofibromatosis
    • neurofibromatosis type I
    • von Recklinghausen Disease
Homo sapiens (human)
DOID:4992
  • optic nerve glioma
  • Aliases:
    • glioma of the optic nerve
Homo sapiens (human)
DOID:8712
  • neurofibromatosis
Homo sapiens (human)
DOID:0070483
  • Watson syndrome
Homo sapiens (human)
DOID:0111683
  • neurofibromatosis-Noonan syndrome
  • Aliases:
    • NFNS
    • Noonan neurofibromatosis syndrome
    • neurofibromatosis type 1-Noonan syndrome
    • neurofibromatosis with Noonan phenotype
Homo sapiens (human)
DOID:5151
  • plexiform neurofibroma
Homo sapiens (human)
DOID:0070482
  • spinal neurofibromatosis
  • Aliases:
    • FNSF
    • SNF
    • familial spinal neurofibromatosis
Homo sapiens (human)
DOID:0070384
  • developmental and epileptic encephalopathy 98
  • Aliases:
    • DEE98
    • early infantile epileptic encephalopathy 98
Homo sapiens (human)
DOID:0050635
  • alternating hemiplegia of childhood
  • Aliases:
    • AHC
Homo sapiens (human)
DOID:0111182
  • familial hemiplegic migraine 2
  • Aliases:
    • FHM2
    • Familial hemiplegic migraine-2
    • MHP2
Homo sapiens (human)
DOID:0060409
  • NFIA-related disorder
  • Aliases:
    • 1p31p32 microdeletion syndrome
    • Chromosome 1, Monosomy 1p32
    • brain malformations with or without urinary tract defects
    • chromosome 1p32-p31 deletion syndrome
Homo sapiens (human)
DOID:13300
  • Scheuermann's disease
  • Aliases:
    • Juvenile osteochondritis of the spine
    • Juvenile osteochondrosis of Scheurermann
    • Juvenile osteochondrosis of spine
    • Scheuermann's kyphosis
    • Sherman's Disease
Homo sapiens (human)
DOID:0050858
  • Marshall-Smith syndrome
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: December 9, 2024