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 Source
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:0110158
  • Charcot-Marie-Tooth disease type 2I
  • Aliases:
    • CMT2I
    • Charcot-Marie-Tooth neuropathy type 2I
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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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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Last updated: August 19, 2024