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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1026 - 1050 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0070119
  • Meckel syndrome 5
  • Aliases:
    • MKS5
    • Meckel-Gruber syndrome, type 5
Homo sapiens (human)
DOID:0070120
  • Meckel syndrome 6
  • Aliases:
    • MKS6
    • Meckel-Gruber syndrome, type 6
Homo sapiens (human)
DOID:0070121
  • Meckel syndrome 7
  • Aliases:
    • MKS7
    • Meckel-Gruber syndrome, type 7
Homo sapiens (human)
DOID:0070122
  • Meckel syndrome 8
  • Aliases:
    • MKS8
    • Meckel-Gruber syndrome, type 8
Homo sapiens (human)
DOID:0070123
  • congenital nongoitrous hypothyroidism 4
  • Aliases:
    • CHNG4
    • isolated thyrotropin deficiency
Homo sapiens (human)
DOID:0070124
  • congenital nongoitrous hypothyroidism 2
  • Aliases:
    • CHNG2
    • congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Homo sapiens (human)
DOID:0070128
  • congenital nongoitrous hypothyroidism 6
  • Aliases:
    • CHNG6
Homo sapiens (human)
DOID:0070129
  • autosomal recessive cutis laxa type IID
  • Aliases:
    • ARCL2D
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:0070132
  • autosomal recessive cutis laxa type IIIA
  • Aliases:
    • ARCL3A
    • De Barsy syndrome A
Homo sapiens (human)
DOID:0070133
  • autosomal recessive cutis laxa type IB
  • Aliases:
    • ARCL1B
Homo sapiens (human)
DOID:0070134
  • autosomal recessive cutis laxa type IIA
  • Aliases:
    • ARCL2A
Homo sapiens (human)
DOID:0070135
  • autosomal recessive cutis laxa type IA
  • Aliases:
    • ARCL1A
Homo sapiens (human)
DOID:0070136
  • autosomal dominant cutis laxa 2
  • Aliases:
    • ADCL2
Homo sapiens (human)
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:0070138
  • autosomal recessive cutis laxa type IIIB
  • Aliases:
    • ARCL3B
    • De Barsy syndrome B
Homo sapiens (human)
DOID:0070139
  • autosomal recessive cutis laxa type IC
  • Aliases:
    • ARCL1C
    • autosomal recessive cutis laxa type 1C
Homo sapiens (human)
DOID:0070140
  • autosomal recessive cutis laxa type IIC
Homo sapiens (human)
DOID:0070143
  • autosomal recessive cutis laxa type III
  • Aliases:
    • De Barsy syndrome
    • cutis laxa-corneal clouding-intellectual disability syndrome
Homo sapiens (human)
DOID:0070145
  • hereditary sensory and autonomic neuropathy type 5
  • Aliases:
    • HSAN5
    • hereditary sensory and autonomic neuropathy type V
Homo sapiens (human)
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Homo sapiens (human)
DOID:0070149
  • hereditary sensory and autonomic neuropathy type 7
  • Aliases:
    • HSAN7
    • hereditary sensory and autonomic neuropathy type VII
Homo sapiens (human)
DOID:0070150
  • hereditary sensory and autonomic neuropathy type 2B
  • Aliases:
    • HSAN2B
    • hereditary sensory and autonomic neuropathy type IIB
Homo sapiens (human)
DOID:0070151
  • hereditary sensory and autonomic neuropathy type 6
  • Aliases:
    • HSAN6
    • hereditary sensory and autonomic neuropathy type VI
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: December 8, 2025