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 1026 - 1050 of 4621 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism
DOID:0070142
  • autosomal dominant cutis laxa
  • Aliases:
    • ADCL
Homo sapiens (human)
DOID:0111206
  • autosomal dominant distal hereditary motor neuronopathy 2
  • Aliases:
    • HMN II
    • HMN IIA
    • HMN2
    • HMN2A
    • autosomal dominant adult spinal muscular atrophy IIA
    • distal hereditary motor neuronopathy type 2
    • distal hereditary motor neuronopathy type 2A
    • distal hereditary motor neuropathy type II
    • distal hereditary motor neuropathy type IIA
    • spinal Charcot-Marie-Tooth disease IIA
Homo sapiens (human)
DOID:0070014
  • autosomal dominant dyskeratosis congenita 1
  • Aliases:
    • DKCA1
    • Dyskeratosis Congenita, Scoggins Type
Homo sapiens (human)
DOID:0090018
  • autosomal dominant familial periodic fever
  • Aliases:
    • FHF
    • FPF
    • TNF receptor associated periodic syndrome
    • TRAPS
    • familial Hibernian fever
    • hibernian fever
    • tumor necrosis factor receptor associated periodic syndrome
Homo sapiens (human)
DOID:0090107
  • autosomal dominant hypocalcemia 1
  • Aliases:
    • HYPOC1
Homo sapiens (human)
DOID:0090109
  • autosomal dominant hypocalcemia
  • Aliases:
    • HYPOC
Homo sapiens (human)
DOID:0050948
  • autosomal dominant hypophosphatemic rickets
Homo sapiens (human)
DOID:0070034
  • autosomal dominant intellectual developmental disorder 4
  • Aliases:
    • MRD4
    • autosomal dominant mental retardation 4
    • autosomal dominant non-syndromic intellectual disability 4
Homo sapiens (human)
DOID:0060307
  • autosomal dominant intellectual developmental disorder
  • Aliases:
    • autosomal dominant mental retardation
    • autosomal dominant non-syndromic mental retardation
Homo sapiens (human)
DOID:0110305
  • autosomal dominant limb-girdle muscular dystrophy type 1
  • Aliases:
    • LGMD1D
    • autosomal dominant limb-girdle muscular dystrophy type 1E
    • muscular dystrophy limb-girdle type 1D
    • muscular dystrophy limb-girdle type 1E
Homo sapiens (human)
DOID:0110303
  • autosomal dominant limb-girdle muscular dystrophy type 1H
  • Aliases:
    • LGMD1H
    • muscular dystrophy limb-girdle type 1H
Homo sapiens (human)
DOID:0110304
  • autosomal dominant limb-girdle muscular dystrophy type 2
  • Aliases:
    • LGMD1F
    • autosomal dominant limb-girdle muscular dystrophy type 1F
    • muscular dystrophy limb-girdle type 1F
Homo sapiens (human)
DOID:0110306
  • autosomal dominant limb-girdle muscular dystrophy type 3
  • Aliases:
    • LGMD1G
    • autosomal dominant limb-girdle muscular dystrophy type 1G
    • muscular dystrophy limb-girdle type 1G
Homo sapiens (human)
DOID:0110273
  • autosomal dominant limb-girdle muscular dystrophy
Homo sapiens (human)
DOID:0110541
  • autosomal dominant nonsyndromic deafness 1
  • Aliases:
    • DFNA1
    • Konigsmark syndrome
    • LFHL1
    • autosomal dominant deafness 1
    • autosomal dominant deafness 1, with or without thrombocytopenia
    • hereditary low frequency hearing loss 1
Homo sapiens (human)
DOID:0110542
  • autosomal dominant nonsyndromic deafness 10
  • Aliases:
    • DFNA10
    • autosomal dominant deafness 10
Homo sapiens (human)
DOID:0110543
  • autosomal dominant nonsyndromic deafness 11
  • Aliases:
    • DFNA11
    • autosomal dominant deafness 11
Homo sapiens (human)
DOID:0110544
  • autosomal dominant nonsyndromic deafness 12
  • Aliases:
    • DFNA12
    • DFNA8
    • autosomal dominant deafness 12
    • autosomal dominant deafness 8
Homo sapiens (human)
DOID:0110545
  • autosomal dominant nonsyndromic deafness 13
  • Aliases:
    • DFNA13
    • autosomal dominant deafness 13
Homo sapiens (human)
DOID:0110546
  • autosomal dominant nonsyndromic deafness 15
  • Aliases:
    • DFNA15
    • autosomal dominant deafness 15
Homo sapiens (human)
DOID:0110547
  • autosomal dominant nonsyndromic deafness 16
  • Aliases:
    • DFNA16
    • autosomal dominant deafness 16
Homo sapiens (human)
DOID:0110548
  • autosomal dominant nonsyndromic deafness 17
  • Aliases:
    • DFNA17
    • autosomal dominant deafness 17
Homo sapiens (human)
DOID:0110549
  • autosomal dominant nonsyndromic deafness 18
  • Aliases:
    • DFNA18
    • autosomal dominant deafness 18
Homo sapiens (human)
DOID:0110550
  • autosomal dominant nonsyndromic deafness 20
  • Aliases:
    • DFNA20
    • DFNA26
    • autosomal dominant deafness 20
Homo sapiens (human)
DOID:0110551
  • autosomal dominant nonsyndromic deafness 21
  • Aliases:
    • DFNA21
    • autosomal dominant deafness 21
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