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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 776 - 800 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0070094
  • oculocutaneous albinism type IA
  • Aliases:
    • OCA1A
    • Oculocutaneous Albinism, Tyrosinase-Negative
Homo sapiens (human)
DOID:0070095
  • oculocutaneous albinism type IB
  • Aliases:
    • Albinism, Yellow Mutant Type
    • OCA1B
Homo sapiens (human)
DOID:0070096
  • oculocutaneous albinism type II
  • Aliases:
    • OCA2
    • Oculocutaneous Albinism, Tyrosinase-Positive
Homo sapiens (human)
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Homo sapiens (human)
DOID:0070098
  • oculocutaneous albinism type IV
  • Aliases:
    • OCA4
Homo sapiens (human)
DOID:0070111
  • Niemann-Pick disease type A
Homo sapiens (human)
DOID:0070112
  • Niemann-Pick disease type B
Homo sapiens (human)
DOID:0070113
  • Niemann-Pick disease type C1
  • Aliases:
    • NPC1
Homo sapiens (human)
DOID:0070114
  • Niemann-Pick disease type C2
  • Aliases:
    • NPC2
Homo sapiens (human)
DOID:0070117
  • Meckel syndrome 3
  • Aliases:
    • MKS3
    • Meckel-Gruber syndrome, type 3
Homo sapiens (human)
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)
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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 9, 2024