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 1101 - 1125 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0060728
  • NGLY1-deficiency
  • Aliases:
    • NGLY1-CDDG
    • congenital disorder of deglycosylation
    • congenital disorder of glycosylation type Iv
    • deficiency of N-glycanase 1
Homo sapiens (human)
DOID:9839
  • accommodative esotropia
Homo sapiens (human)
DOID:0050985
  • spinocerebellar ataxia type 38
Homo sapiens (human)
DOID:0050882
  • spinocerebellar ataxia type 5
Homo sapiens (human)
DOID:0050956
  • spinocerebellar ataxia type 6
Homo sapiens (human)
DOID:0050958
  • spinocerebellar ataxia type 7
Homo sapiens (human)
DOID:0111012
  • cone-rod dystrophy 7
  • Aliases:
    • CORD7
Homo sapiens (human)
DOID:0050981
  • spinocerebellar ataxia type 34
Homo sapiens (human)
DOID:0111195
  • erythrokeratodermia variabilis et progressiva 1
Homo sapiens (human)
DOID:0050467
  • erythrokeratodermia variabilis
  • Aliases:
    • Erythrokeratodermia Figurata Variabilis
    • Greither Disease
Homo sapiens (human)
DOID:0110406
  • retinitis pigmentosa 30
  • Aliases:
    • RP30
Homo sapiens (human)
DOID:0110384
  • retinitis pigmentosa 25
  • Aliases:
    • RP25
Homo sapiens (human)
DOID:0080759
  • Fanconi renotubular syndrome 3
Homo sapiens (human)
DOID:0111060
  • Ambras type hypertrichosis universalis congenita
  • Aliases:
    • Ambras syndrome
    • HTC1
Homo sapiens (human)
DOID:0111062
  • familial hypobetalipoproteinemia 1
  • Aliases:
    • FHBL1
Homo sapiens (human)
DOID:1387
  • hypolipoproteinemia
  • Aliases:
    • Hypolipoproteinaemia
Homo sapiens (human)
DOID:1386
  • abetalipoproteinemia
  • Aliases:
    • familial hypobetalipoproteinemia
    • microsomal triglyceride transfer protein deficiency disease
Homo sapiens (human)
DOID:1391
  • Norum disease
  • Aliases:
    • LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
    • lecithin acyltransferase deficiency
Homo sapiens (human)
DOID:0050766
  • choreaacanthocytosis
  • Aliases:
    • Levine-Critchley syndrome
    • choreo-acanthocytosis
Homo sapiens (human)
DOID:1388
  • Tangier disease
  • Aliases:
    • familial alpha-lipoprotein deficiency
    • familial high density lipoprotein deficiency
Homo sapiens (human)
DOID:200
  • benign giant cell tumor
Homo sapiens (human)
DOID:3255
  • botryoid rhabdomyosarcoma
  • Aliases:
    • Botryoid sarcoma
    • Botryoid-type Embryonal Rhabdomyosarcoma
    • sarcoma botryoides
Homo sapiens (human)
DOID:3246
  • embryonal rhabdomyosarcoma
Homo sapiens (human)
DOID:0090045
  • childhood onset GLUT1 deficiency syndrome 2
Homo sapiens (human)
DOID:0060604
  • ankyloglossia
  • Aliases:
    • tongue-tie
Homo sapiens (human)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024