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 9001 - 9025 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0081320
  • multiple synostoses syndrome 4
Homo sapiens (human)
DOID:0080281
  • schizophrenia 19
Homo sapiens (human)
DOID:0070537
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • Aliases:
    • SPATCCM
Homo sapiens (human)
DOID:0080751
  • keratosis pilaris atrophicans
Homo sapiens (human)
DOID:0080860
  • primary ovarian insufficiency 3
Homo sapiens (human)
DOID:070355
  • multisystem proteinopathy
Homo sapiens (human)
DOID:0110731
  • neuronal ceroid lipofuscinosis 3
  • Aliases:
    • Batten disease
    • CLN3
    • juvenile neuronal ceroid lipofuscinosis
Homo sapiens (human)
DOID:0081156
  • common variable immunodeficiency 14
Homo sapiens (human)
DOID:0110341
  • osteogenesis imperfecta type 2
  • Aliases:
    • OI2
    • Vrolik type of osteogenesis imperfecta
    • osteogenesis imperfecta type II
    • perinatal lethal osteogenesis imperfecta congenita
Homo sapiens (human)
DOID:0110229
  • cataract 6 multiple types
  • Aliases:
    • CTRCT6
Homo sapiens (human)
DOID:3649
  • pyruvate decarboxylase deficiency
  • Aliases:
    • deficiency of pyruvic dehydrogenase
    • pyruvate dehydrogenase complex deficiency disease
    • pyruvate dehydrogenase deficiency
Homo sapiens (human)
DOID:0060807
  • syndromic X-linked intellectual disability Najm type
  • Aliases:
    • MICPCH
    • X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
    • mental retardation and microcephaly with pontine and cerebellar hypoplasia
Homo sapiens (human)
DOID:0110569
  • autosomal dominant nonsyndromic deafness 44
  • Aliases:
    • DFNA44
    • autosomal dominant deafness 44
Homo sapiens (human)
DOID:8465
  • retinoschisis
Homo sapiens (human)
DOID:0060674
  • catecholaminergic polymorphic ventricular tachycardia
Homo sapiens (human)
DOID:0110671
  • congenital myasthenic syndrome 6
  • Aliases:
    • CMS Ia2
    • CMS1A2
    • CMS6
    • CMSEA
    • FIM
    • FIMG2
    • congenital myasthenic syndrome 6, presynaptic
    • congenital myasthenic syndrome type Ia2
    • congenital presynaptic myasthenic syndrome associated with episodic apnea
    • familial infantile myasthenia
    • familial infantile myasthenia gravis 2
Homo sapiens (human)
DOID:0070012
  • Seckel syndrome 5
  • Aliases:
    • SCKL5
Homo sapiens (human)
DOID:0070247
  • autosomal dominant Emery-Dreifuss muscular dystrophy 2
  • Aliases:
    • EDMD2
    • EMD2
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
    • Emery-Dreifuss muscular dystrophy, autosomal dominant
    • Hauptmann-Thannhauser muscular dystrophy
    • autosomal dominant limb-girdle muscular dystrophy type 1B
    • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
    • scapuloilioperoneal atrophy with cardiopathy
Homo sapiens (human)
DOID:1749
  • squamous cell carcinoma
  • Aliases:
    • epidermoid carcinoma
    • malignant squamous cell tumor
    • squamous carcinoma
    • squamous cell Epithelioma
    • squamous cell cancer
Homo sapiens (human)
DOID:0110174
  • Charcot-Marie-Tooth disease axonal type 2L
  • Aliases:
    • CMT2L
    • Charcot-Marie-Tooth neuropathy axonal type 2L
    • autosomal dominant Charcot-Marie-Tooth disease type 2L
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
Homo sapiens (human)
DOID:0080053
  • Albright's hereditary osteodystrophy
  • Aliases:
    • Albright hereditary osteodystrophy
    • pseudohypoparathyroidism type 1a
Homo sapiens (human)
DOID:0070489
  • classic dopamine transporter deficiency syndrome
  • Aliases:
    • PKDYS1
    • classic DTDS
    • infantile parkinsonism-dystonia 1
Homo sapiens (human)
DOID:0110860
  • polycystic kidney disease 3
  • Aliases:
    • Apkd3
    • Pkd3
    • Polycystic Kidney Disease, Adult, Type III
Homo sapiens (human)
DOID:0112106
  • chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
  • Aliases:
    • X-linked dominant chondrodysplasia, Chassaing-Lacombe type
    • X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Homo sapiens (human)
DOID:0080075
  • Neu-Laxova syndrome 2
Homo sapiens (human)

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Last updated: December 9, 2024