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
DisGeNET
Glyco-Disease Genes Database (GDGDB)
Displaying entries 1301 - 1325 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0110204
  • Charcot-Marie-Tooth disease recessive intermediate B
  • Aliases:
    • CMTRIB
    • Charcot-Marie-Tooth neuropathy recessive intermediate B
    • RI-CMTB
    • autosomal recessive intermediate Charcot-Marie-Tooth disease type B
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: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:0110156
  • Charcot-Marie-Tooth disease type 2B1
  • Aliases:
    • CMT2B1
    • Charcot-Marie-Tooth disease neuronal type 2B1
    • Charcot-Marie-Tooth neuropathy type 2B1
    • autosomal recessive Charcot-Marie-Tooth disease type 2B1
    • autosomal recessive axonal CMT4C1
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
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: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: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:0110149
  • Charcot-Marie-Tooth disease type 1F
  • Aliases:
    • CMT1F
    • Charcot-Marie-Tooth neuropathy type 1F
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:0110154
  • Charcot-Marie-Tooth disease type 2A1
  • Aliases:
    • CMT2A1
    • Charcot-Marie-Tooth disease neuronal type 2A1
    • Charcot-Marie-Tooth neuropathy type 2A1
    • HMSN IIA1
    • HMSN2A1
    • autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
    • hereditary motor and sensory neuropathy IIA1
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: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)
DOID:0110150
  • Charcot-Marie-Tooth disease type 1D
  • Aliases:
    • CMT1D
    • Charcot-Marie-Tooth neuropathy type 1D
    • HMSN ID
    • HMSN1D
    • hereditary motor and sensory neuropathy 1D
Homo sapiens (human)
DOID:0110210
  • Charcot-Marie-Tooth disease X-linked recessive 5
  • Aliases:
    • CMT5X
    • CMTX5
    • Charcot-Marie-Tooth neuropathy X-linked recessive 5
    • Rosenberg-Chutorian syndrome
    • X-linked Charcot-Marie-Tooth disease type 5
    • optic atrophy, polyneuropathy, and deafness
Homo sapiens (human)
DOID:0110148
  • Charcot-Marie-Tooth disease type 1A
  • Aliases:
    • CMT1A
    • Charcot-Marie-Tooth neuropathy type 1A
    • HMSN1A
    • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
    • hereditary motor and sensory neuropathy 1A
    • microduplication 17p12
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:0110184
  • Charcot-Marie-Tooth disease type 4J
  • Aliases:
    • CMT4J
    • autosomal recessive Charcot-Marie-Tooth disease type 4J
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: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:0110153
  • Charcot-Marie-Tooth disease type 1E
  • Aliases:
    • CMT1E
    • Charcot-Marie-Tooth disease and deafness
    • Charcot-Marie-Tooth disease demyelinating type 1E
    • Charcot-Marie-Tooth disease-deafness
    • autosomal dominant Charcot-Marie-Tooth neuropathy and deafness
Homo sapiens (human)
DOID:0110158
  • Charcot-Marie-Tooth disease type 2I
  • Aliases:
    • CMT2I
    • Charcot-Marie-Tooth neuropathy type 2I
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: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)

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Last updated: August 19, 2024