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 1226 - 1250 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
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:0110168
  • Charcot-Marie-Tooth disease type 2Y
  • Aliases:
    • CMT2 due to VCP mutation
    • CMT2Y
    • Charcot-Marie-Tooth neuropathy type 2Y
    • autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
    • autosomal dominant axonal Charcot-Marie-Tooth type 2Y
Homo sapiens (human)
DOID:0110169
  • Charcot-Marie-Tooth disease axonal type 2P
  • Aliases:
    • CMT2P
    • Charcot-Marie-Tooth disease type 2P
    • Charcot-Marie-Tooth neuropathy type 2P
Homo sapiens (human)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Homo sapiens (human)
DOID:0110173
  • Charcot-Marie-Tooth disease axonal type 2U
  • Aliases:
    • CMT2U
    • Charcot-Marie-Tooth neuropathy type 2U
    • autosomal dominant Charcot-Marie-Tooth disease type 2U
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
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: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:0110177
  • Charcot-Marie-Tooth disease axonal type 2N
  • Aliases:
    • CMT2N
    • Charcot-Marie-Tooth neuropathy axonal type 2N
    • autosomal dominant Charcot-Marie-Tooth disease type 2N
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
Homo sapiens (human)
DOID:0110178
  • Charcot-Marie-Tooth disease axonal type 2V
  • Aliases:
    • CMT2V
    • Charcot-Marie-Tooth neuropathy type 2V
    • autosomal dominant Charcot-Marie-Tooth disease type 2V
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
Homo sapiens (human)
DOID:0110179
  • Charcot-Marie-Tooth disease type 2B2
  • Aliases:
    • AR-CMT2B2
    • ARCMT2B
    • Autosomal recessive axonal CMT4C3
    • CMT2B2
    • Charcot-Marie-Tooth disease neuronal type 2B2
    • Charcot-Marie-Tooth neuropathy type 2B2
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
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: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:0110185
  • Charcot-Marie-Tooth disease type 4A
  • Aliases:
    • CMT4A
    • Charcot-Marie-Tooth neuropathy type 4A
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A
Homo sapiens (human)
DOID:0110186
  • Charcot-Marie-Tooth disease type 4D
  • Aliases:
    • CMT4D
    • Charcot-Marie-Tooth neuropathy type 4D
    • HMSN Lom type
    • HMSN-Lom
    • HMSN4D
    • HMSNL
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D
    • hereditary motor and sensory neuropathy LOM type
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:0110190
  • Charcot-Marie-Tooth disease type 4B2
  • Aliases:
    • CMT4B2
    • Charcot-Marie-Tooth neuropathy type 4B2
    • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
Homo sapiens (human)
DOID:0110191
  • Charcot-Marie-Tooth disease type 4B1
  • Aliases:
    • CMT4B1
    • Charcot-Marie-Tooth neuropathy type 4B1
    • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
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:0110193
  • Charcot-Marie-Tooth disease type 4F
  • Aliases:
    • CMT4F
Homo sapiens (human)
DOID:0110194
  • Charcot-Marie-Tooth disease type 4B3
  • Aliases:
    • CMT4B3
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: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:0110197
  • Charcot-Marie-Tooth disease dominant intermediate B
  • Aliases:
    • CMTDI1
    • CMTDIB
    • Charcot-Marie-Tooth neuropathy dominant intermediate B
    • DI-CMTB
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)

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Last updated: August 19, 2024