GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3551 - 3575 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0110474
  • autosomal recessive nonsyndromic deafness 18B
  • Aliases:
    • DFNB18B
    • autosomal recessive deafness 18B
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Homo sapiens (human)
DOID:0110014
  • age related macular degeneration 1
  • Aliases:
    • ARMD1
    • age related maculopathy 1
Homo sapiens (human)
DOID:0110243
  • cataract 46 juvenile-onset
  • Aliases:
    • CTRCT46
    • juvenilae cataract Hutterite type
Homo sapiens (human)
DOID:0050888
  • syndromic intellectual disability
Homo sapiens (human)
DOID:0081143
  • agammaglobulinemia 8B
Homo sapiens (human)
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Homo sapiens (human)
DOID:3689
  • brachial plexus neuritis
  • Aliases:
    • Brachial neuritis
    • Parsonage-Aldren-Turner syndrome
Homo sapiens (human)
DOID:0081237
  • acromesomelic dysplasia-3
  • Aliases:
    • Demirhan-type acromesomelic dysplasia
Homo sapiens (human)
DOID:0090122
  • aromatase excess syndrome
  • Aliases:
    • AEXS
    • familial hyperestrogenism
    • hereditary prepubertal gynecomastia
    • increased aromatase activity
Homo sapiens (human)
DOID:5572
  • Beckwith-Wiedemann syndrome
Homo sapiens (human)
DOID:10024
  • migraine with aura
  • Aliases:
    • classic migraine
Homo sapiens (human)
DOID:0060565
  • Ritscher-Schinzel syndrome
  • Aliases:
    • CCC dysplasia
    • craniocerebellocardiac dysplasia
Homo sapiens (human)
DOID:0110910
  • leukocyte adhesion deficiency 1
  • Aliases:
    • LAD1
    • LFA1 immunodeficiency
    • leukocyte adhesion deficiency type I
    • lymphocyte function-associated antigen 1 immunodeficiency
Homo sapiens (human)
DOID:0060879
  • primary hypomagnesemia
  • Aliases:
    • HOMG
    • primary familial hypomagnesemia
Homo sapiens (human)
DOID:12399
  • pathological gambling
  • Aliases:
    • Compulsive gambling
Homo sapiens (human)
DOID:0050580
  • hereditary lymphedema
Homo sapiens (human)
DOID:0080456
  • developmental and epileptic encephalopathy 46
  • Aliases:
    • DEE46
    • early infantile epileptic encephalopathy 46
Homo sapiens (human)
DOID:0060244
  • specific language impairment
Homo sapiens (human)
DOID:0111916
  • spermatogenic failure 28
  • Aliases:
    • SPGF28
Homo sapiens (human)
DOID:1930
  • Laurence-Moon syndrome
  • Aliases:
    • LNMS
Homo sapiens (human)
DOID:0111421
  • familial apolipoprotein A5 deficiency
  • Aliases:
    • familial APOA5 deficiency
    • familial apolipoprotein A-V deficiency
Homo sapiens (human)
DOID:9719
  • neovascular inflammatory vitreoretinopathy
  • Aliases:
    • ADNIV
    • Retinitis proliferans
    • autosomal dominant neovascular inflammatory vitreoretinopathy
    • proliferative vitreoretinopathy
Homo sapiens (human)
DOID:9835
  • refractive error
Homo sapiens (human)
DOID:0060801
  • MEHMO syndrome
  • Aliases:
    • MRXS20
    • MRXS25
    • X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
    • mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
    • syndromic X-linked mental retardation 20
    • syndromic X-linked mental retardation 25
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 v4.1.0

Last updated: December 9, 2024