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 1176 - 1200 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
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:0050539
  • Charcot-Marie-Tooth disease type 2
  • Aliases:
    • hereditary motor and sensory neuropathy Guadalajara neuronal type
    • hereditary motor and sensory neuropathy Okinawa type
    • hereditary motor and sensory neuropathy type 2
Homo sapiens (human)
DOID:0050905
  • inflammatory myofibroblastic tumor
Homo sapiens (human)
DOID:0060167
  • seasonal affective disorder
  • Aliases:
    • winter depression
Homo sapiens (human)
DOID:10873
  • Kuhnt-Junius degeneration
  • Aliases:
    • Exudative senile macular degeneration of retina
    • Neovascular age-related macular degeneration
    • Senile macular degeneration, wet
    • Wet senile macular retinal degeneration
Homo sapiens (human)
DOID:3587
  • pancreatic ductal carcinoma
  • Aliases:
    • malignant neoplasm of duct of Wirsung
    • pancreatic duct cancer
Homo sapiens (human)
DOID:11294
  • arteriovenous malformation
  • Aliases:
    • Arteriovenous hemangioma
    • Cirsoid aneurysm
    • Racemose Angioma
    • Racemose aneurysm
    • Racemose hemangioma
Homo sapiens (human)
DOID:0080379
  • nephrotic syndrome type 2
  • Aliases:
    • steroid-resistant autosomal recessive nephrotic syndrome
Homo sapiens (human)
DOID:10314
  • endocarditis
Homo sapiens (human)
DOID:12401
  • intermittent explosive disorder
  • Aliases:
    • explosive personality disorder
Homo sapiens (human)
DOID:0110307
  • hypertrophic cardiomyopathy 1
  • Aliases:
    • CMH1
    • cardiomyopathy, familial hypertrophic 1
    • hypertrophic cardiomyopathy 19
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