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 4101 - 4125 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
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: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: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: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: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:0110158
  • Charcot-Marie-Tooth disease type 2I
  • Aliases:
    • CMT2I
    • Charcot-Marie-Tooth neuropathy type 2I
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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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: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:0110193
  • Charcot-Marie-Tooth disease type 4F
  • Aliases:
    • CMT4F
Homo sapiens (human)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024