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 1101 - 1125 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0110195
  • Charcot-Marie-Tooth disease type 4E
  • Aliases:
    • CMT4E
    • Charcot-Marie-Tooth neuropathy type 4E
    • Neuropathy, congenital hypomyelinating, 1
    • autosomal recessive congenital hypomyelinating or amyelinating neuropathy
Homo sapiens (human)
DOID:0110174
  • Charcot-Marie-Tooth disease axonal type 2L
  • Aliases:
    • CMT2L
    • Charcot-Marie-Tooth neuropathy axonal type 2L
    • autosomal dominant Charcot-Marie-Tooth disease type 2L
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
Homo sapiens (human)
DOID:0110161
  • Charcot-Marie-Tooth disease type 2R
  • Aliases:
    • CMT2R
    • Charcot-Marie-Tooth neuropathy type 2R
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2R
Homo sapiens (human)
DOID:0110183
  • Charcot-Marie-Tooth disease type 4C
  • Aliases:
    • CMT4C
    • Charcot-Marie-Tooth neuropathy type 4C
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C
Homo sapiens (human)
DOID:0110192
  • Charcot-Marie-Tooth disease type 4H
  • Aliases:
    • CMT4H
    • Charcot-Marie-Tooth neuropathy type 4H
    • autosomal recessive Charcot-Marie-Tooth disease type 4H
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
Homo sapiens (human)
DOID:0110198
  • Charcot-Marie-Tooth disease recessive intermediate C
  • Aliases:
    • CMTRIC
    • RI-CMT type C
    • RI-CMTC
    • autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Homo sapiens (human)
DOID:0110149
  • Charcot-Marie-Tooth disease type 1F
  • Aliases:
    • CMT1F
    • Charcot-Marie-Tooth neuropathy type 1F
Homo sapiens (human)
DOID:0110157
  • Charcot-Marie-Tooth disease type 2J
  • Aliases:
    • CMT2J
    • Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
    • Charcot-Marie-Tooth neuropathy type 2J
Homo sapiens (human)
DOID:0110182
  • Charcot-Marie-Tooth disease axonal type 2C
  • Aliases:
    • CMT2C
    • Charcot-Marie-Tooth neuropathy type 2C
    • HMSN2C
    • autosomal cominant axonal Charcot-Marie-Tooth disease type 2C
    • autosomal dominant Charcot-Marie-Tooth disease type 2C
    • hereditary motor and sensory neuropathy type IIc
Homo sapiens (human)
DOID:5418
  • schizoaffective disorder
Homo sapiens (human)
DOID:11328
  • schizophreniform disorder
Homo sapiens (human)
DOID:2491
  • sensory peripheral neuropathy
  • Aliases:
    • peripheral Sensory Neuropathy
    • sensory neuropathy
Homo sapiens (human)
DOID:0050539
  • Charcot-Marie-Tooth disease type 2
  • Aliases:
    • hereditary motor and sensory neuropathy Guadalajara neuronal type
    • hereditary motor and sensory neuropathy Okinawa type
    • hereditary motor and sensory neuropathy type 2
Homo sapiens (human)
DOID:0070161
  • hereditary sensory and autonomic neuropathy type 2
  • Aliases:
    • HSAN2
    • hereditary sensory and autonomic neuropathy type II
Homo sapiens (human)
DOID:0050548
  • hereditary sensory neuropathy
  • Aliases:
    • familial dysautonomia, type II
    • hereditary sensory and autonomic neuropathy
Homo sapiens (human)
DOID:0070162
  • hereditary sensory and autonomic neuropathy type 1
  • Aliases:
    • HSAN1
    • hereditary sensory and autonomic neuropathy type I
Homo sapiens (human)
DOID:0070152
  • hereditary sensory and autonomic neuropathy type 1A
  • Aliases:
    • HSAN1A
    • hereditary sensory and autonomic neuropathy type IA
Homo sapiens (human)
DOID:13072
  • acquired hyperkeratosis
  • Aliases:
    • Keratoderma - acquired
    • Keratoderma, acquired
    • acquired keratoderma
Homo sapiens (human)
DOID:11589
  • Riley-Day syndrome
  • Aliases:
    • HSAN III
    • familial autonomic nervous dysfunction
    • familial dysautonomia
Homo sapiens (human)
DOID:161
  • keratosis
Homo sapiens (human)
DOID:0070145
  • hereditary sensory and autonomic neuropathy type 5
  • Aliases:
    • HSAN5
    • hereditary sensory and autonomic neuropathy type V
Homo sapiens (human)
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Homo sapiens (human)
DOID:0081381
  • juvenile amyotrophic lateral sclerosis type 27
Homo sapiens (human)
DOID:936
  • brain disease
  • Aliases:
    • encephalopathy
Homo sapiens (human)
DOID:0050572
  • cone-rod dystrophy
  • Aliases:
    • cone-rod retinal dystrophy
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