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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 14001 - 14025 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0060009
  • MHC class I deficiency
  • Aliases:
    • BLS, TYPE I
    • BLSI
    • HLA CLASS I DEFICIENCY
    • bare lymphocyte syndrome type I
Homo sapiens (human)
DOID:0110594
  • primary ciliary dyskinesia 1
  • Aliases:
    • CILD1
    • primary ciliary dyskinesia 1 with or without situs inversus
Mus musculus (house mouse)
DOID:3529
  • congenital myopathy 1A
  • Aliases:
    • central core disease
    • central core myopathy
Rattus norvegicus (Norway rat)
DOID:0060675
  • catecholaminergic polymorphic ventricular tachycardia 1
  • Aliases:
    • CVPT1
    • arrhythmogenic right ventricular dysplasia 2
Rattus norvegicus (Norway rat)
DOID:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Mus musculus (house mouse)
DOID:0111398
  • congenital dyserythropoietic anemia type Ia
  • Aliases:
    • CDA Ia
    • CDAN1A
Mus musculus (house mouse)
DOID:0111396
  • congenital dyserythropoietic anemia type I
  • Aliases:
    • CDA I
    • CDA type 1
    • CDA type I
    • Congenital dyserythropoietic anaemia type 1
    • Congenital dyserythropoietic anemia type 1
    • congenital dyserythropoietic anaemia type I
Mus musculus (house mouse)
DOID:0111870
  • nonphotosensitive trichothiodystrophy 7
  • Aliases:
    • TTD7
Homo sapiens (human)
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Rattus norvegicus (Norway rat)
DOID:0110993
  • Joubert syndrome 24
  • Aliases:
    • JBTS24
Rattus norvegicus (Norway rat)
DOID:0070122
  • Meckel syndrome 8
  • Aliases:
    • MKS8
    • Meckel-Gruber syndrome, type 8
Rattus norvegicus (Norway rat)
DOID:5602
  • T-cell adult acute lymphocytic leukemia
  • Aliases:
    • ATLL
    • Acute Adult T-cell Leukemia-Lymphoma
    • adult Precursor T Lymphoblastic Leukemia
Homo sapiens (human)
DOID:0111691
  • familial adult myoclonic epilepsy 5
  • Aliases:
    • FAME5
    • FCMTE5
    • familial cortical myoclonic tremor and epilepsy 5
Homo sapiens (human)
DOID:0090053
  • episodic kinesigenic dyskinesia 1
  • Aliases:
    • Paroxysmal kinesigenic choreoathetosis
Mus musculus (house mouse)
DOID:0081115
  • benign familial infantile seizures 2
  • Aliases:
    • Benign Familial Infantile Seizures, 2
Mus musculus (house mouse)
DOID:0070423
  • early onset progressive encephalopathy with brain atrophy and thin corpus callosum
  • Aliases:
    • PEBAT
    • early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
Homo sapiens (human)
DOID:0080722
  • Kenny-Caffey syndrome type 1
Homo sapiens (human)
DOID:0050155
  • sensory system disease
Homo sapiens (human)
DOID:0111837
  • congenital nongoitrous hypothyroidism 8
  • Aliases:
    • CHNG8
Homo sapiens (human)
DOID:0050967
  • spinocerebellar ataxia type 17
Homo sapiens (human)
DOID:0070345
  • vertebral anomalies and variable endocrine and T-cell dysfunction
  • Aliases:
    • heterozygotes for TBX2 variants
Homo sapiens (human)
DOID:0112363
  • spondylocostal dysostosis 5
  • Aliases:
    • SCDO5
Homo sapiens (human)
DOID:0080736
  • Ehlers-Danlos syndrome musculocontractural type 1
Rattus norvegicus (Norway rat)
DOID:0112251
  • Ghosal hematodiaphyseal syndrome
  • Aliases:
    • Ghosal hematodiaphyseal dysplasia
    • Ghosal syndrome
    • diaphyseal dysplasia-anemia syndrome
Homo sapiens (human)
DOID:0080253
  • Meckel syndrome 13
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024