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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 3601 - 3625 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Homo sapiens (human)
DOID:0080118
  • mitochondrial complex III deficiency nuclear type 9
Homo sapiens (human)
DOID:0080114
  • mitochondrial complex III deficiency nuclear type 5
Homo sapiens (human)
DOID:0080110
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome
  • Aliases:
    • multiple pterygium syndrome
Homo sapiens (human)
DOID:0080109
  • infantile myofibromatosis
  • Aliases:
    • lipofibromatosis
Homo sapiens (human)
DOID:0080108
  • myoglobinuria
Homo sapiens (human)
DOID:0080107
  • microcephaly and chorioretinopathy 3
Homo sapiens (human)
DOID:0080105
  • microcephaly and chorioretinopathy 1
Homo sapiens (human)
DOID:0080101
  • Compton-North congenital myopathy
  • Aliases:
    • congenital myopathy 12
Homo sapiens (human)
DOID:0080097
  • myofibrillar myopathy 6
Homo sapiens (human)
DOID:0080096
  • myofibrillar myopathy 5
  • Aliases:
    • filaminopathy
Homo sapiens (human)
DOID:0080095
  • myofibrillar myopathy 4
  • Aliases:
    • zaspopathy
Homo sapiens (human)
DOID:0080093
  • myofibrillar myopathy 2
  • Aliases:
    • alpha-b crystallinopathy
Homo sapiens (human)
DOID:0080092
  • myofibrillar myopathy 1
  • Aliases:
    • autosomal recessive limb-girdle muscular dystrophy type 2R
    • desminopathy
Homo sapiens (human)
DOID:0080090
  • reducing body myopathy 1A
Homo sapiens (human)
DOID:0080089
  • tubular aggregate myopathy 1
Homo sapiens (human)
DOID:0080086
  • nonsyndromic congenital nail disorder 8
  • Aliases:
    • isolated toenail dystrophy
Homo sapiens (human)
DOID:0080082
  • nonsyndromic congenital nail disorder 4
  • Aliases:
    • HYPONYCHIA CONGENITA
    • anonychia congenita
Homo sapiens (human)
DOID:0080081
  • nonsyndromic congenital nail disorder 3
Homo sapiens (human)
DOID:0080079
  • nonsyndromic congenital nail disorder 1
  • Aliases:
    • nonsyndromic congenital nail disorder 10
    • twenty-nail dystrophy
Homo sapiens (human)
DOID:0080077
  • hypophosphatemic nephrolithiasis/osteoporosis 1
Homo sapiens (human)
DOID:0080076
  • Neu-Laxova syndrome 1
Homo sapiens (human)
DOID:0080075
  • Neu-Laxova syndrome 2
Homo sapiens (human)
DOID:0080074
  • neural tube defect
Homo sapiens (human)
DOID:0080072
  • intestinal pseudo-obstruction
  • Aliases:
    • Chronic intestinal pseudo-obstruction
    • neuronal intestinal dysplasia
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: December 9, 2024