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 1201 - 1225 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0110135
  • Bardet-Biedl syndrome 13
  • Aliases:
    • BBS13
Homo sapiens (human)
DOID:0110136
  • Bardet-Biedl syndrome 14
  • Aliases:
    • BBS14
Homo sapiens (human)
DOID:0110137
  • Bardet-Biedl syndrome 15
  • Aliases:
    • BBS15
Homo sapiens (human)
DOID:0110138
  • Bardet-Biedl syndrome 16
  • Aliases:
    • BBS16
Homo sapiens (human)
DOID:0110139
  • Bardet-Biedl syndrome 17
  • Aliases:
    • BBS17
Homo sapiens (human)
DOID:0110140
  • Bardet-Biedl syndrome 18
  • Aliases:
    • BBS18
Homo sapiens (human)
DOID:0110141
  • Bardet-Biedl syndrome 19
  • Aliases:
    • BBS19
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:0110149
  • Charcot-Marie-Tooth disease type 1F
  • Aliases:
    • CMT1F
    • Charcot-Marie-Tooth neuropathy type 1F
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: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: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: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: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: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: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:0110158
  • Charcot-Marie-Tooth disease type 2I
  • Aliases:
    • CMT2I
    • Charcot-Marie-Tooth neuropathy type 2I
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: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)
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: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: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: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)

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Last updated: August 19, 2024