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:0110207
  • Charcot-Marie-Tooth disease X-linked dominant 6
  • Aliases:
    • CMT6X
    • CMTX6
    • Charcot-Marie-Tooth neuropathy X-linked dominant 6
    • X-linked Charcot-Marie-Tooth disease type 6
Homo sapiens (human)
DOID:0110211
  • Charcot-Marie-Tooth disease X-linked recessive 3
  • Aliases:
    • CMT3X
    • CMTX3
    • Charcot-Marie-Tooth neuropathy X-linked recessive 3
    • X-linked Charcot-Marie-Tooth disease type 3
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: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:0110166
  • Charcot-Marie-Tooth disease axonal type 2H
  • Aliases:
    • AR-CMT2C
    • Autosomal recessive axonal CMT4C2
    • Axonal Charcot-Marie-Tooth disease with pyramidal involvement
    • CMT2H
    • Charcot-Marie-Tooth disease type 2H
    • autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features
    • autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features
Homo sapiens (human)
DOID:0110175
  • Charcot-Marie-Tooth disease axonal type 2O
  • Aliases:
    • Charcot-Marie-Tooth neuropathy axonal type 2O
    • autosomal dominant Charcot-Marie-Tooth disease type 2O
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
Homo sapiens (human)
DOID:0110149
  • Charcot-Marie-Tooth disease type 1F
  • Aliases:
    • CMT1F
    • Charcot-Marie-Tooth neuropathy type 1F
Homo sapiens (human)
DOID:0110164
  • Charcot-Marie-Tooth disease type 2D
  • Aliases:
    • CMT2D
    • Charcot-Marie-Tooth disease neuronal type 2D
    • Charcot-Marie-Tooth neuropathy type 2D
    • autosomal dominant Charcot-Marie-Tooth disease type 2D
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:0110203
  • Charcot-Marie-Tooth disease recessive intermediate D
  • Aliases:
    • CMTRID
    • RI-CMT type D
    • autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Homo sapiens (human)
DOID:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Homo sapiens (human)
DOID:0110206
  • Charcot-Marie-Tooth disease dominant intermediate F
  • Aliases:
    • CMTDIF
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Homo sapiens (human)
DOID:0110212
  • Charcot-Marie-Tooth disease X-linked recessive 4
  • Aliases:
    • CMT4X
    • CMTX4
    • Charcot-Marie-Tooth disease with deafness and mental retardation
    • Cowchock syndrome
    • NADMR
    • NAMSD
    • X-linked Charcot-Marie-Tooth disease type 4
    • axonal motor sensory neuropathy with deafness and mental retardation
Homo sapiens (human)
DOID:0110163
  • Charcot-Marie-Tooth disease axonal type 2F
  • Aliases:
    • CMT2F
    • Charcot-Marie-Tooth neuronal type 2F
    • Charcot-Marie-Tooth neuropathy type 2F
    • autosomal dominant Charcot-Marie-Tooth disease type 2F
Homo sapiens (human)
DOID:0110187
  • Charcot-Marie-Tooth disease type 4K
  • Aliases:
    • CMT4K
    • SURF1-related CMT4
    • SURF1-related Charcot-Marie-Tooth disease type 4
    • SURF1-related severe demyelinating Charcot-Marie-Tooth disease
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
    • autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
Homo sapiens (human)
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: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: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:0110184
  • Charcot-Marie-Tooth disease type 4J
  • Aliases:
    • CMT4J
    • autosomal recessive Charcot-Marie-Tooth disease type 4J
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: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:0110167
  • Charcot-Marie-Tooth disease axonal type 2K
  • Aliases:
    • ARCMT2K
    • Charcot-Marie-Tooth neuropathy axonal type 2K
    • autosomal recessive Charcot-Marie-Tooth disease with hoarseness
    • autosomal recessive axonal CMT4C4
    • autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Homo sapiens (human)
DOID:2477
  • motor peripheral neuropathy
  • Aliases:
    • HSMN
    • HSMN - Hereditary sensory and motor neuropathy
    • Hereditary motor and sensory neuropathy
    • Peripheral Motor Neuropathy
    • neuropathic muscular atrophy
Homo sapiens (human)
DOID:0110200
  • Charcot-Marie-Tooth disease dominant intermediate D
  • Aliases:
    • CMTDID
    • Charcot-Marie-Tooth neuropathy dominant intermediate D
    • DI-CMTD
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Homo sapiens (human)
DOID:0110202
  • Charcot-Marie-Tooth disease dominant intermediate A
  • Aliases:
    • CMTDIA
    • Charcot-Marie-Tooth neuropathy dominant intermediate A
    • DI-CMTA
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Homo sapiens (human)

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Last updated: August 19, 2024