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 3851 - 3875 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
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: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:0110184
  • Charcot-Marie-Tooth disease type 4J
  • Aliases:
    • CMT4J
    • autosomal recessive Charcot-Marie-Tooth disease type 4J
Homo sapiens (human)
DOID:0110190
  • Charcot-Marie-Tooth disease type 4B2
  • Aliases:
    • CMT4B2
    • Charcot-Marie-Tooth neuropathy type 4B2
    • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
Homo sapiens (human)
DOID:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Homo sapiens (human)
DOID:0110210
  • Charcot-Marie-Tooth disease X-linked recessive 5
  • Aliases:
    • CMT5X
    • CMTX5
    • Charcot-Marie-Tooth neuropathy X-linked recessive 5
    • Rosenberg-Chutorian syndrome
    • X-linked Charcot-Marie-Tooth disease type 5
    • optic atrophy, polyneuropathy, and deafness
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: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:0060600
  • obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
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: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:0110209
  • Charcot-Marie-Tooth disease X-linked dominant 1
  • Aliases:
    • CMT1X
    • CMTX1
    • Charcot-Marie-Tooth neuropathy X-linked dominant 1
    • X-linked Charcot-Marie-Tooth disease type 1
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: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:10595
  • Charcot-Marie-Tooth disease
  • Aliases:
    • CMT - Charcot-Marie-Tooth disease
Homo sapiens (human)
DOID:2253
  • cervix disease
Homo sapiens (human)
DOID:5757
  • endocervicitis
Homo sapiens (human)
DOID:2568
  • cervicitis
Homo sapiens (human)
DOID:2893
  • cervix carcinoma
  • Aliases:
    • cancer of cervix
    • carcinoma cervix uteri
    • carcinoma of cervix
    • carcinoma of the Cervix Uteri
Homo sapiens (human)
DOID:4362
  • cervical cancer
  • Aliases:
    • cervical neoplasm
    • cervix cancer
    • cervix uteri cancer
    • neoplasm of uterine cervix
    • tumor of the Cervix Uteri
    • uterine cervical neoplasm
Homo sapiens (human)
DOID:1969
  • cerebral palsy
  • Aliases:
    • infantile cerebral palsy
Homo sapiens (human)
DOID:10965
  • spastic diplegia
  • Aliases:
    • Diplegic infantile cerebral palsy
    • Infantile spastic cerebral palsy
    • Little's disease
    • Littles disease
    • cerebral spastic infantile paralysis
    • infantile diplegic cerebral palsy
Homo sapiens (human)
DOID:10968
  • spastic monoplegia
  • Aliases:
    • Monoplegic infantile cerebral palsy
    • infantile monoplegic cerebral palsy
    • spastic monoplegic cerebral palsy
Homo sapiens (human)
DOID:10970
  • spastic quadriplegic cerebral palsy
  • Aliases:
    • inherited congenital spastic quadriplegia
    • inherited congenital spastic tetraplegia
    • quadriplegic infantile cerebral palsy
    • spastic quadriplegia
    • tetraplegic infantile cerebral palsy
Homo sapiens (human)
DOID:10969
  • hemiplegia
  • Aliases:
    • Infantile hemiplegia
    • Postnatal infantile hemiplegia
Homo sapiens (human)

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Last updated: August 19, 2024