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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 14176 - 14200 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0070405
  • hypomyelinating leukodystrophy 16
  • Aliases:
    • HLD16
Mus musculus (house mouse)
DOID:7427
  • anthrax disease
Mus musculus (house mouse)
DOID:0050871
  • fibroma
Mus musculus (house mouse)
DOID:0111669
  • hyaline fibromatosis syndrome
  • Aliases:
    • HFS
    • inherited systemic hyalinosis
    • puretic syndrome
    • systemic hyalinosis
Mus musculus (house mouse)
DOID:0060297
  • complement component 4a deficiency
Homo sapiens (human)
DOID:0111836
  • congenital nongoitrous hypothyroidism 7
  • Aliases:
    • CHNG7
    • TRH resistance syndrome
    • central hypothyroidism due to TRH receptor deficiency
    • resistance to thyrotropin-releasing hormone syndrome
Homo sapiens (human)
DOID:0050605
  • acrodermatitis enteropathica
Mus musculus (house mouse)
DOID:0080432
  • developmental and epileptic encephalopathy 60
  • Aliases:
    • DEE60
    • early infantile epileptic encephalopathy 60
Mus musculus (house mouse)
DOID:0080579
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency
Mus musculus (house mouse)
DOID:0070074
  • autosomal dominant intellectual developmental disorder 44
  • Aliases:
    • MRD44
    • autosomal dominant intellectual developmental disorder 44 with microcephaly
    • autosomal dominant mental retardation 44
    • autosomal dominant non-syndromic intellectual disability 44
Homo sapiens (human)
DOID:0081147
  • common variable immunodeficiency 4
Mus musculus (house mouse)
DOID:0060298
  • complement component 4b deficiency
Homo sapiens (human)
DOID:0080736
  • Ehlers-Danlos syndrome musculocontractural type 1
Mus musculus (house mouse)
DOID:0070295
  • primary autosomal dominant microcephaly 18
  • Aliases:
    • MCPH18
Mus musculus (house mouse)
DOID:2935
  • Chediak-Higashi syndrome
  • Aliases:
    • CHS
    • Chediak - Steinbrinck anomaly
Mus musculus (house mouse)
DOID:0110722
  • neuronal ceroid lipofuscinosis 7
  • Aliases:
    • CLN7
Mus musculus (house mouse)
DOID:0111744
  • cerebellar ataxia type 41
  • Aliases:
    • SCA41
Homo sapiens (human)
DOID:0111129
  • focal segmental glomerulosclerosis 2
  • Aliases:
    • FSGS2
Homo sapiens (human)
DOID:0080376
  • trichorhinophalangeal syndrome type III
  • Aliases:
    • trichorhinophalangeal syndrome type 3
Homo sapiens (human)
DOID:14743
  • trichorhinophalangeal syndrome type I
  • Aliases:
    • trichorhinophalangeal syndrome type 1
    • type I trichorhinophalangeal syndrome
Homo sapiens (human)
DOID:0111180
  • French Canadian Leigh disease
  • Aliases:
    • French Canadian type COX deficiency
    • French Canadian type Leigh syndrome
    • French Canadian type cytochrome c oxidase deficiency
    • Saguenay Lac saint Jean type COX deficiency
    • Saguenay Lac saint Jean type Leigh syndrome
    • mitochondrial complex IV deficiency nuclear type 5
Mus musculus (house mouse)
DOID:0080324
  • tuberous sclerosis 1
Homo sapiens (human)
DOID:0060648
  • anterior segment dysgenesis
  • Aliases:
    • anterior segment developmental anomaly
    • corneal opacification and other ocular anomalies
    • sclerocornea with other ocular anomalies
Homo sapiens (human)
DOID:3317
  • hepatic angiomyolipoma
Homo sapiens (human)
DOID:0070182
  • spermatogenic failure 13
  • Aliases:
    • SPGF13
Mus musculus (house mouse)
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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