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 5751 - 5775 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:12679
  • nephrocalcinosis
Homo sapiens (human)
DOID:2485
  • phosphorus metabolism disease
  • Aliases:
    • Phosphorus disorder
    • disorder of phosphorus metabolism
    • phosphorus metabolism disorder
Homo sapiens (human)
DOID:12678
  • hypercalcemia
Homo sapiens (human)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Homo sapiens (human)
DOID:0050889
  • non-syndromic intellectual disability
Homo sapiens (human)
DOID:0080561
  • congenital disorder of glycosylation Ii
  • Aliases:
    • congenital disorder of glycosylation 1i
Homo sapiens (human)
DOID:9834
  • hyperopia
  • Aliases:
    • Far-sightedness
    • farsightedness
    • hypermetropia
Homo sapiens (human)
DOID:0050454
  • periventricular nodular heterotopia
  • Aliases:
    • periventricular heterotopia
Homo sapiens (human)
DOID:12859
  • choreatic disease
  • Aliases:
    • chorea
    • hereditary chorea
Homo sapiens (human)
DOID:0060810
  • syndromic X-linked intellectual disability type 10
  • Aliases:
    • HSD10 deficiency, atypical type
    • HSD10 disease, atypical type
    • MRXS10
    • X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
    • mental retardation, X-linked syndromic 10
Homo sapiens (human)
DOID:13372
  • alpha 1-antitrypsin deficiency
  • Aliases:
    • AAT deficiency
Homo sapiens (human)
DOID:11193
  • syndactyly
  • Aliases:
    • symphalangism
    • symphalangy
    • webbing of digits
Homo sapiens (human)
DOID:2732
  • Rothmund-Thomson syndrome
  • Aliases:
    • Congenital poikiloderma
    • RTS
Homo sapiens (human)
DOID:0050429
  • Hailey-Hailey disease
  • Aliases:
    • BENIGN CHRONIC PEMPHIGUS
    • Pemphigus, Benign Familial
Homo sapiens (human)
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:0070133
  • autosomal recessive cutis laxa type IB
  • Aliases:
    • ARCL1B
Homo sapiens (human)
DOID:0070132
  • autosomal recessive cutis laxa type IIIA
  • Aliases:
    • ARCL3A
    • De Barsy syndrome A
Homo sapiens (human)
DOID:0070138
  • autosomal recessive cutis laxa type IIIB
  • Aliases:
    • ARCL3B
    • De Barsy syndrome B
Homo sapiens (human)
DOID:0070130
  • autosomal dominant cutis laxa 1
  • Aliases:
    • ADCL1
Homo sapiens (human)
DOID:0070131
  • autosomal dominant cutis laxa 3
  • Aliases:
    • ADCL3
Homo sapiens (human)
DOID:0070136
  • autosomal dominant cutis laxa 2
  • Aliases:
    • ADCL2
Homo sapiens (human)
DOID:0060762
  • restrictive dermopathy
  • Aliases:
    • Infantile restrictive dermopathy
    • Lethal tight skin contracture syndrome
    • hyperkeratosis-contracture syndrome
    • lethal restrictive dermopathy
    • tight skin contracture syndrome
Homo sapiens (human)
DOID:0070142
  • autosomal dominant cutis laxa
  • Aliases:
    • ADCL
Homo sapiens (human)
DOID:0070135
  • autosomal recessive cutis laxa type IA
  • Aliases:
    • ARCL1A
Homo sapiens (human)
DOID:0070134
  • autosomal recessive cutis laxa type IIA
  • Aliases:
    • ARCL2A
Homo sapiens (human)

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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


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Last updated: August 19, 2024