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 5676 - 5700 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0110871
  • congenital stationary night blindness 2A
  • Aliases:
    • congenital stationary night blindness 2A X-linked
Homo sapiens (human)
DOID:0110865
  • congenital stationary night blindness 1B
  • Aliases:
    • CSNB1B
    • autosomal recessive complete congenital stationary night blindness
    • congenital stationary night blindness 1B autosomal recessive
Homo sapiens (human)
DOID:0110008
  • achromatopsia 3
  • Aliases:
    • ACHM1
    • ACHM3
    • Pingelapese blindness
    • RMCH1
    • rod monochromacy 1
    • rod monochromatism 1
Homo sapiens (human)
DOID:0090059
  • enhanced S-cone syndrome
Homo sapiens (human)
DOID:0112318
  • Schindler disease type 1
  • Aliases:
    • NAGA deficiency type 1
    • alpha-N-acetylgalactosaminidase deficiency type 1
Mus musculus (house mouse)
DOID:2367
  • neuroaxonal dystrophy
Mus musculus (house mouse)
DOID:14499
  • Fabry disease
  • Aliases:
    • Alpha-galactosidase A deficiency
    • Angiokeratoma Corporis Diffusum
    • Fabry Disease, Cardiac Variant
    • Fabry's disease
    • alpha galactosidase deficiency
    • deficiency of melibiase
Mus musculus (house mouse)
DOID:0112319
  • Kanzaki disease
  • Aliases:
    • NAGA deficiency type 2
    • adult-onset alpha-N-acetylgalactosaminidase deficiency
    • alpha-N-acetylgalactosaminidase deficiency type 2
Mus musculus (house mouse)
DOID:479
  • angiokeratoma
  • Aliases:
    • Angiokeratoma of skin
    • Cutaneous Angiokeratoma
    • skin angiokeratoma
Mus musculus (house mouse)
DOID:2367
  • neuroaxonal dystrophy
Rattus norvegicus (Norway rat)
DOID:479
  • angiokeratoma
  • Aliases:
    • Angiokeratoma of skin
    • Cutaneous Angiokeratoma
    • skin angiokeratoma
Rattus norvegicus (Norway rat)
DOID:14499
  • Fabry disease
  • Aliases:
    • Alpha-galactosidase A deficiency
    • Angiokeratoma Corporis Diffusum
    • Fabry Disease, Cardiac Variant
    • Fabry's disease
    • alpha galactosidase deficiency
    • deficiency of melibiase
Rattus norvegicus (Norway rat)
DOID:0112319
  • Kanzaki disease
  • Aliases:
    • NAGA deficiency type 2
    • adult-onset alpha-N-acetylgalactosaminidase deficiency
    • alpha-N-acetylgalactosaminidase deficiency type 2
Rattus norvegicus (Norway rat)
DOID:0112318
  • Schindler disease type 1
  • Aliases:
    • NAGA deficiency type 1
    • alpha-N-acetylgalactosaminidase deficiency type 1
Rattus norvegicus (Norway rat)
DOID:3407
  • carotid artery disease
  • Aliases:
    • disorder of carotid artery
Rattus norvegicus (Norway rat)
DOID:3407
  • carotid artery disease
  • Aliases:
    • disorder of carotid artery
Mus musculus (house mouse)
DOID:0080576
  • spondyloepimetaphyseal dysplasia, Genevieve-type
Mus musculus (house mouse)
DOID:14227
  • azoospermia
Mus musculus (house mouse)
DOID:11198
  • DiGeorge syndrome
  • Aliases:
    • 22q11.2 deletion syndrome
    • DiGeorge sequence
    • DiGeorge's syndrome
    • Pharyngeal pouch syndrome
Mus musculus (house mouse)
DOID:12716
  • newborn respiratory distress syndrome
  • Aliases:
    • HMD - Hyaline membrane disease
    • Neonatal respiratory Distress syndrome
    • hyaline membrane disease
    • pulmonary hyaline membrane disease
    • pulmonary hypoperfusion syndrome of newborn
    • respiratory distress syndrome of newborn
Mus musculus (house mouse)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Mus musculus (house mouse)
DOID:14227
  • azoospermia
Rattus norvegicus (Norway rat)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Rattus norvegicus (Norway rat)
DOID:11198
  • DiGeorge syndrome
  • Aliases:
    • 22q11.2 deletion syndrome
    • DiGeorge sequence
    • DiGeorge's syndrome
    • Pharyngeal pouch syndrome
Rattus norvegicus (Norway rat)
DOID:12716
  • newborn respiratory distress syndrome
  • Aliases:
    • HMD - Hyaline membrane disease
    • Neonatal respiratory Distress syndrome
    • hyaline membrane disease
    • pulmonary hyaline membrane disease
    • pulmonary hypoperfusion syndrome of newborn
    • respiratory distress syndrome of newborn
Rattus norvegicus (Norway rat)

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Last updated: August 19, 2024