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 4776 - 4800 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0080432
  • developmental and epileptic encephalopathy 60
  • Aliases:
    • DEE60
    • early infantile epileptic encephalopathy 60
Mus musculus (house mouse)
DOID:853
  • polymyalgia rheumatica
Mus musculus (house mouse)
DOID:2565
  • macular corneal dystrophy
  • Aliases:
    • Fehr corneal dystrophy
    • MACULAR DYSTROPHY, CORNEAL, 1
Mus musculus (house mouse)
DOID:0060108
  • brain glioma
  • Aliases:
    • lower grade glioma
Mus musculus (house mouse)
DOID:11729
  • Lyme disease
  • Aliases:
    • Bannwarth syndrome
    • Bannworth's syndrome
    • Lyme borreliosis
    • Neurological Lyme disease
    • lyme neuroborreliosis
    • neuroborreliosis
Mus musculus (house mouse)
DOID:0070538
  • syndromic X-linked intellectual developmental disorder bain type
  • Aliases:
    • HNRNPH2-RNDD
    • HNRNPH2-related neurodevelopmental disorder
    • MRXSB
    • Mental Retardation, X-linked, Syndrome, Bain Type
Mus musculus (house mouse)
DOID:0111017
  • cone-rod dystrophy 10
  • Aliases:
    • CORD10
Mus musculus (house mouse)
DOID:0050868
  • hepatocellular adenoma
Mus musculus (house mouse)
DOID:0050784
  • primary progressive multiple sclerosis
  • Aliases:
    • PPMS
    • Primary-progressive MS
Mus musculus (house mouse)
DOID:0110581
  • autosomal dominant nonsyndromic deafness 56
  • Aliases:
    • DFNA56
    • autosomal dominant deafness 56
Mus musculus (house mouse)
DOID:11342
  • arcus senilis
  • Aliases:
    • Arcus of cornea
    • corneal arcus
Mus musculus (house mouse)
DOID:9246
  • cerebral amyloid angiopathy
  • Aliases:
    • Cerebral Hemorrhage, Hereditary, with Amyloidosis
    • Hereditary Cerebral Hemorrhage with Amyloidosis
Mus musculus (house mouse)
DOID:0080433
  • developmental and epileptic encephalopathy 51
  • Aliases:
    • DEE51
    • early infantile epileptic encephalopathy 51
Mus musculus (house mouse)
DOID:14737
  • craniofrontonasal syndrome
  • Aliases:
    • CFND
    • CFNS
    • craniofrontonasal dysostosis
    • craniofrontonasal dysplasia
Mus musculus (house mouse)
DOID:447
  • renal tubular transport disease
  • Aliases:
    • inborn renal tubular transport disorder
Mus musculus (house mouse)
DOID:5213
  • chronic inflammatory demyelinating polyradiculoneuropathy
Mus musculus (house mouse)
DOID:0081119
  • benign familial infantile seizures 6
  • Aliases:
    • Autosomal dominant nocturnal frontal lobe epilepsy
    • Benign Familial Infantile Seizures, 6
    • nocturnal frontal lobe epilepsy-4
Mus musculus (house mouse)
DOID:4972
  • myelodysplastic/myeloproliferative neoplasm
  • Aliases:
    • Myeloproliferative/Myelodysplastic syndromes
    • myelodysplastic myeloproliferative cancer
Mus musculus (house mouse)
DOID:0060966
  • dystonia 22, juvenile-onset
Mus musculus (house mouse)
DOID:0112001
  • immunodeficiency 50
  • Aliases:
    • CID due to Moesin deficiency
    • IMD50
    • MSN-related combined immunodeficiency
    • X-linked Moesin-associated immunodeficiency
    • combined immunodeficiency due to Moesin deficiency
    • immunodeficiency 50 X linked recessive
Mus musculus (house mouse)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Mus musculus (house mouse)
DOID:423
  • myopathy
Mus musculus (house mouse)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Mus musculus (house mouse)
DOID:9269
  • maple syrup urine disease
  • Aliases:
    • Ketoacidaemia
    • branched chain ketoaciduria
Mus musculus (house mouse)
DOID:0090014
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
  • Aliases:
    • autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
Mus musculus (house mouse)

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Last updated: December 9, 2024