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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 15926 - 15950 of 15957 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism Source
DOID:0111769
  • 46,XY sex reversal 6
  • Aliases:
    • 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
    • 46,XY sex reversal, partial or complete, MAP3K1-related
    • SRXY6
Homo sapiens (human)
DOID:0111776
  • 46,XY sex reversal 5
  • Aliases:
    • 46,XY gonadal dysgenesis, complete, CBX2-related
    • 46,XY sex reversal, CBX2-related
    • SRXY5
    • disorder of sex development, 46,XY, CBX2-related
    • sex reversal, XY, CBX2-related
Mus musculus (house mouse)
DOID:0111776
  • 46,XY sex reversal 5
  • Aliases:
    • 46,XY gonadal dysgenesis, complete, CBX2-related
    • 46,XY sex reversal, CBX2-related
    • SRXY5
    • disorder of sex development, 46,XY, CBX2-related
    • sex reversal, XY, CBX2-related
Homo sapiens (human)
DOID:0111777
  • 46,XY sex reversal 2
  • Aliases:
    • 46,XY sex reversal, DAX1-related
    • 46XY sex reversal 2, dosage-sensitive
    • SRXY2
    • dosage-sensitive sex reversal
Homo sapiens (human)
DOID:0080943
  • 46,XX sex reversal 5
Homo sapiens (human)
DOID:0080943
  • 46,XX sex reversal 5
Mus musculus (house mouse)
DOID:14450
  • 46 XX gonadal dysgenesis
  • Aliases:
    • ovarian dysgenesis
Mus musculus (house mouse)
DOID:14450
  • 46 XX gonadal dysgenesis
  • Aliases:
    • ovarian dysgenesis
Rattus norvegicus (Norway rat)
DOID:14450
  • 46 XX gonadal dysgenesis
  • Aliases:
    • ovarian dysgenesis
Homo sapiens (human)
DOID:0060577
  • 3MC syndrome 3
Xenopus tropicalis (tropical clawed frog)
DOID:0060577
  • 3MC syndrome 3
Mus musculus (house mouse)
DOID:0060577
  • 3MC syndrome 3
Homo sapiens (human)
DOID:0060576
  • 3MC syndrome 2
Homo sapiens (human)
DOID:0060575
  • 3MC syndrome 1
Mus musculus (house mouse)
DOID:0060575
  • 3MC syndrome 1
Rattus norvegicus (Norway rat)
DOID:0060575
  • 3MC syndrome 1
Homo sapiens (human)
DOID:0081134
  • 3-methylglutaconic aciduria type 7b
Saccharomyces cerevisiae S288C
DOID:0081133
  • 3-methylglutaconic aciduria type 7a
Saccharomyces cerevisiae S288C
DOID:0110004
  • 3-methylglutaconic aciduria type 3
  • Aliases:
    • 3-methylglutaconic aciduria type III
    • Costeff optic atrophy syndrome
    • Costeff syndrome
    • Iraqi-Jewish optic atrophy plus
    • MGA3
    • autosomal recessive optic atrophy plus syndrome
    • autosomal recessive optic atrophy type 3
    • infantile optic atrophy with chorea and spastic paraplegia
Homo sapiens (human)
DOID:0080579
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency
Homo sapiens (human)
DOID:0080579
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency
Mus musculus (house mouse)
DOID:0060241
  • 3-M syndrome
  • Aliases:
    • Le Merrer syndrome
    • Miller-McKusick-Malvaux syndrome
    • Yakut short stature syndrome
    • dolichospondylic dysplasia
    • gloomy face syndrome
    • three M syndrome
Homo sapiens (human)
DOID:0050573
  • 2-hydroxyglutaric aciduria
Homo sapiens (human)
DOID:0050573
  • 2-hydroxyglutaric aciduria
Drosophila melanogaster (fruit fly)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Mus musculus (house mouse)
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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