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 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: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: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: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: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: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: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: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: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:0110159
  • Charcot-Marie-Tooth disease type 2B
  • Aliases:
    • CMT2B
    • Charcot-Marie-Tooth neuropathy type 2B
    • HMSN IIB
    • HMSN2B
    • autosomal dominant Charcot-Marie-Tooth disease type 2B
    • hereditary motor and sensory nueropathy IIB
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:0110205
  • Charcot-Marie-Tooth disease dominant intermediate E
  • Aliases:
    • CMTDIE
    • Charcot-Marie-Tooth disease-nephropathy syndrome
    • Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type E
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:0110152
  • Charcot-Marie-Tooth disease type 1B
  • Aliases:
    • CMT1B
    • Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
    • Charcot-Marie-Tooth neuropathy type 1B
    • HMSN IB
    • HMSN1B
    • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
    • hereditary motor and sensory neuropathy IB
    • peroneal muscular atrophy
Homo sapiens (human)
DOID:0110151
  • Charcot-Marie-Tooth disease type 1C
  • Aliases:
    • CMT slow nerve conduction type C
    • CMT1C
    • Charcot-Marie-Tooth neuropathy type 1C
    • HMSN IC
    • HMSN1C
    • neuropathy hereditary motor and sensory type 1C
Homo sapiens (human)
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: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: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:0110155
  • Charcot-Marie-Tooth disease type 2A2A
  • Aliases:
    • CMT2A2A
    • Charcot-Marie-Tooth neuronal type 2A2
    • Charcot-Marie-Tooth neuropathy type 2A2
    • HMSN IIA2
    • HMSN2A2
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2
    • hereditary motor and sensory neuropathy IIA2
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: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: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: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: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:0110160
  • Charcot-Marie-Tooth disease axonal type 2T
  • Aliases:
    • AR-CMT2T
    • CMT2T
    • Charcot-Marie-Tooth neuropathy type 2T
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
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)

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Supported by JST NBDC Grant Number JPMJND2204

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