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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1276 - 1300 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0070543
  • neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
  • Aliases:
    • NEDCASB
Homo sapiens (human)
DOID:0070544
  • congenital glutamine deficiency
  • Aliases:
    • GLND
    • congenital systemic glutamine synthase deficiency
Homo sapiens (human)
DOID:0070545
  • developmental and epileptic encephalopathy 116
  • Aliases:
    • DEE116
Homo sapiens (human)
DOID:0070546
  • primary pigmented nodular adrenocortical disease 1
  • Aliases:
    • PPNAD1
Homo sapiens (human)
DOID:0070547
  • primary pigmented nodular adrenocortical disease 2
  • Aliases:
    • PPNAD2
Homo sapiens (human)
DOID:0070550
  • KRT1-related nonepidermolytic palmoplantar keratoderma
  • Aliases:
    • KRT1-related NEPPK
Homo sapiens (human)
DOID:0070551
  • epidermolytic palmoplantar keratoderma 2
  • Aliases:
    • EPPK2
Homo sapiens (human)
DOID:0070552
  • epidermolytic palmoplantar keratoderma 1
  • Aliases:
    • EPPK1
Homo sapiens (human)
DOID:0070554
  • palmoplantar keratoderma and woolly hair
  • Aliases:
    • PPKWH
    • keratoderma with woolly hair type IV
    • woolly hair-palmoplantar keratoderma syndrome type 4
Homo sapiens (human)
DOID:0070555
  • Nagashima-type palmoplantar keratosis
  • Aliases:
    • NPPK
    • PPKN
    • palmoplantar keratoderma nagashima type
Homo sapiens (human)
DOID:0070556
  • cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1
  • Aliases:
    • CAMRQ syndrome 1
    • CAMRQ1
    • DES-VLDLR
    • VLDLR cerebellar hypoplasia
    • VLDLR-CH
    • VLDLR-associated cerebellar hypoplasia
    • cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1
    • cerebellar ataxia, mental retardation, and disequilibrium syndrome 1
    • cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
    • cerebellar hypoplasia, VLDLR-associated
    • dysequilibrium syndrome-VLDLR
Homo sapiens (human)
DOID:0070560
  • glucose transporter type 1 deficiency syndrome
  • Aliases:
    • GLUT1DS
Homo sapiens (human)
DOID:0070561
  • glucose transporter type 1 deficiency syndrome 1
  • Aliases:
    • De Vivo disease
    • GLUT1 deficiency syndrome 1
    • GLUT1DS1
    • classic GLUT1 deficiency syndrome
    • classic GLUT1-DS
    • classic glucose transporter type 1 deficiency syndrome
    • encephalopathy due to GLUT1 deficiency
Mus musculus (house mouse)
DOID:0070561
  • glucose transporter type 1 deficiency syndrome 1
  • Aliases:
    • De Vivo disease
    • GLUT1 deficiency syndrome 1
    • GLUT1DS1
    • classic GLUT1 deficiency syndrome
    • classic GLUT1-DS
    • classic glucose transporter type 1 deficiency syndrome
    • encephalopathy due to GLUT1 deficiency
Homo sapiens (human)
DOID:0070562
  • Fanconi-Bickel syndrome
  • Aliases:
    • FBS
    • glycogen storage disease XI
    • glycogenosis type XI
    • glycogenosis, Fanconi type
Homo sapiens (human)
DOID:0070563
  • glucose-galactose malabsorption
  • Aliases:
    • GGM
    • SGLT1 deficiency
    • monosaccharide malabsorption
Homo sapiens (human)
DOID:0070565
  • spermatogenic failure 66
  • Aliases:
    • SPGF66
Homo sapiens (human)
DOID:0070566
  • spermatogenic failure 67
  • Aliases:
    • SPGF67
Homo sapiens (human)
DOID:0070567
  • spermatogenic failure 68
  • Aliases:
    • SPGF68
Homo sapiens (human)
DOID:0070568
  • spermatogenic failure 69
  • Aliases:
    • SPGF69
Homo sapiens (human)
DOID:0070569
  • spermatogenic failure 70
  • Aliases:
    • SPGF70
Homo sapiens (human)
DOID:0070572
  • spermatogenic failure 73
  • Aliases:
    • SPGF73
Homo sapiens (human)
DOID:0070577
  • spermatogenic failure 78
  • Aliases:
    • SPGF78
Homo sapiens (human)
DOID:0070578
  • spermatogenic failure 79
  • Aliases:
    • SPGF79
Homo sapiens (human)
DOID:0070579
  • spermatogenic failure 80
  • Aliases:
    • SPGF80
Homo sapiens (human)
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Acknowledgements

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

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Last updated: December 8, 2025