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 6601 - 6625 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
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: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:0110199
  • Charcot-Marie-Tooth disease dominant intermediate C
  • Aliases:
    • CMTDIC
    • Charcot-Marie-Tooth neuropathy dominant intermediate C
    • DI-CMTC
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type C
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: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: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: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: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: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: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:0110184
  • Charcot-Marie-Tooth disease type 4J
  • Aliases:
    • CMT4J
    • autosomal recessive Charcot-Marie-Tooth disease type 4J
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: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: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: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: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: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: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:0110206
  • Charcot-Marie-Tooth disease dominant intermediate F
  • Aliases:
    • CMTDIF
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type F
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: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: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:0110208
  • Charcot-Marie-Tooth disease X-linked recessive 2
  • Aliases:
    • CMTX2
    • Charcot-Marie-Tooth neuropathy X-linked recessive 2
    • X-linked Charcot-Marie-Tooth disease type 2
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)

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