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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 3876 - 3900 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0070129
  • autosomal recessive cutis laxa type IID
  • Aliases:
    • ARCL2D
Homo sapiens (human)
DOID:0070128
  • congenital nongoitrous hypothyroidism 6
  • Aliases:
    • CHNG6
Homo sapiens (human)
DOID:0070124
  • congenital nongoitrous hypothyroidism 2
  • Aliases:
    • CHNG2
    • congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Homo sapiens (human)
DOID:0070123
  • congenital nongoitrous hypothyroidism 4
  • Aliases:
    • CHNG4
    • isolated thyrotropin deficiency
Homo sapiens (human)
DOID:0070122
  • Meckel syndrome 8
  • Aliases:
    • MKS8
    • Meckel-Gruber syndrome, type 8
Homo sapiens (human)
DOID:0070121
  • Meckel syndrome 7
  • Aliases:
    • MKS7
    • Meckel-Gruber syndrome, type 7
Homo sapiens (human)
DOID:0070120
  • Meckel syndrome 6
  • Aliases:
    • MKS6
    • Meckel-Gruber syndrome, type 6
Homo sapiens (human)
DOID:0070119
  • Meckel syndrome 5
  • Aliases:
    • MKS5
    • Meckel-Gruber syndrome, type 5
Homo sapiens (human)
DOID:0070117
  • Meckel syndrome 3
  • Aliases:
    • MKS3
    • Meckel-Gruber syndrome, type 3
Homo sapiens (human)
DOID:0070098
  • oculocutaneous albinism type IV
  • Aliases:
    • OCA4
Homo sapiens (human)
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Homo sapiens (human)
DOID:0070096
  • oculocutaneous albinism type II
  • Aliases:
    • OCA2
    • Oculocutaneous Albinism, Tyrosinase-Positive
Homo sapiens (human)
DOID:0070095
  • oculocutaneous albinism type IB
  • Aliases:
    • Albinism, Yellow Mutant Type
    • OCA1B
Homo sapiens (human)
DOID:0070094
  • oculocutaneous albinism type IA
  • Aliases:
    • OCA1A
    • Oculocutaneous Albinism, Tyrosinase-Negative
Homo sapiens (human)
DOID:0070093
  • schizophrenia 18
  • Aliases:
    • Chromosome 7q36.3 Duplication Syndrome, 362-Kb
    • SCZD18
Homo sapiens (human)
DOID:0070082
  • schizophrenia 6
  • Aliases:
    • SCZD6
Homo sapiens (human)
DOID:0070074
  • autosomal dominant intellectual developmental disorder 44
  • Aliases:
    • MRD44
    • autosomal dominant intellectual developmental disorder 44 with microcephaly
    • autosomal dominant mental retardation 44
    • autosomal dominant non-syndromic intellectual disability 44
Homo sapiens (human)
DOID:0070073
  • autosomal dominant intellectual developmental disorder 43
  • Aliases:
    • MRD43
    • autosomal dominant mental retardation 43
    • autosomal dominant non-syndromic intellectual disability 43
Homo sapiens (human)
DOID:0070072
  • autosomal dominant intellectual developmental disorder 42
  • Aliases:
    • MRD42
    • autosomal dominant mental retardation 42
    • autosomal dominant non-syndromic intellectual disability 42
Homo sapiens (human)
DOID:0070070
  • autosomal dominant intellectual developmental disorder 40
  • Aliases:
    • MRD40
    • autosomal dominant mental retardation 40
    • autosomal dominant non-syndromic intellectual disability 40
Homo sapiens (human)
DOID:0070068
  • autosomal dominant intellectual developmental disorder 38
  • Aliases:
    • MRD38
    • PRELDS
    • autosomal dominant mental retardation 38
    • autosomal dominant non-syndromic intellectual disability 38
    • psychomotor retardation, epilepsy, and language disability syndrome
Homo sapiens (human)
DOID:0070067
  • White-Sutton syndrome
  • Aliases:
    • MRD37
    • WHSUS
    • autosomal dominant mental retardation 37
Homo sapiens (human)
DOID:0070066
  • autosomal dominant intellectual developmental disorder 36
  • Aliases:
    • MRD36
    • autosomal dominant mental retardation 36
    • autosomal dominant non-syndromic intellectual disability 36
Homo sapiens (human)
DOID:0070065
  • autosomal dominant intellectual developmental disorder 35
  • Aliases:
    • MRD35
    • autosomal dominant mental retardation 35
    • autosomal dominant non-syndromic intellectual disability 35
Homo sapiens (human)
DOID:0070063
  • autosomal dominant intellectual developmental disorder 33
  • Aliases:
    • MRD33
    • autosomal dominant mental retardation 33
    • autosomal dominant non-syndromic intellectual disability 33
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