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 3551 - 3575 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
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: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: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: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:0110200
  • Charcot-Marie-Tooth disease dominant intermediate D
  • Aliases:
    • CMTDID
    • Charcot-Marie-Tooth neuropathy dominant intermediate D
    • DI-CMTD
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type D
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: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: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: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: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: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: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: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:0110149
  • Charcot-Marie-Tooth disease type 1F
  • Aliases:
    • CMT1F
    • Charcot-Marie-Tooth neuropathy type 1F
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:0110182
  • Charcot-Marie-Tooth disease axonal type 2C
  • Aliases:
    • CMT2C
    • Charcot-Marie-Tooth neuropathy type 2C
    • HMSN2C
    • autosomal cominant axonal Charcot-Marie-Tooth disease type 2C
    • autosomal dominant Charcot-Marie-Tooth disease type 2C
    • hereditary motor and sensory neuropathy type IIc
Homo sapiens (human)
DOID:0110191
  • Charcot-Marie-Tooth disease type 4B1
  • Aliases:
    • CMT4B1
    • Charcot-Marie-Tooth neuropathy type 4B1
    • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
Homo sapiens (human)
DOID:10595
  • Charcot-Marie-Tooth disease
  • Aliases:
    • CMT - Charcot-Marie-Tooth disease
Homo sapiens (human)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Homo sapiens (human)
DOID:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Homo sapiens (human)
DOID:0060600
  • obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
Homo sapiens (human)
DOID:0060843
  • hereditary neuropathy with liability to pressure palsies
  • Aliases:
    • HNPP
    • current pressure-sensitive neuropathy
    • familial recurrent polyneuropathy
    • heterozygous microdeletion 17p11.2p12
    • potato-grubbing palsy
    • tomaculous neuropathy
    • tulip-bulb digger's palsy
Homo sapiens (human)
DOID:0090104
  • Huntington's disease-like 2
  • Aliases:
    • HDL2
    • Huntington disease-like 2
Homo sapiens (human)
DOID:0090103
  • Huntington's disease-like 1
  • Aliases:
    • HDL1
    • HLN1
    • Huntington disease-like 1
    • Huntington-like neurodegenerative disorder 1
    • autosomal dominant Huntington-like neurodegenerative disorder
    • early-onset prion disease with prominent psychiatric features
Homo sapiens (human)
DOID:12858
  • Huntington's disease
  • Aliases:
    • HD
    • Huntington disease
    • Huntington's chorea
Homo sapiens (human)

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Last updated: August 19, 2024