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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 4551 - 4575 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0080233
  • autosomal dominant intellectual developmental disorder 50
  • Aliases:
    • autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities
    • autosomal dominant mental retardation 50
Homo sapiens (human)
DOID:0110272
  • cataract 40
  • Aliases:
    • CTRCT40
    • cataract 40 X-linked
    • cataract 40 with or without microcornea
Homo sapiens (human)
DOID:11119
  • Gilles de la Tourette syndrome
  • Aliases:
    • Guinon's disease
    • Psychogenic tics
    • Tourette syndrome
    • motor-verbal tic disorder
Homo sapiens (human)
DOID:0050851
  • glomerulosclerosis
Homo sapiens (human)
DOID:0070132
  • autosomal recessive cutis laxa type IIIA
  • Aliases:
    • ARCL3A
    • De Barsy syndrome A
Homo sapiens (human)
DOID:0060582
  • Noonan syndrome 4
  • Aliases:
    • NS4
Homo sapiens (human)
DOID:0050523
  • adult T-cell leukemia/lymphoma
  • Aliases:
    • Adult T-cell leukemia/lymphoma (HTLV-1 positive)
    • adult T-cell leukemia
Homo sapiens (human)
DOID:1148
  • polydactyly
  • Aliases:
    • postaxial polydactyly
Homo sapiens (human)
DOID:0070044
  • Coffin-Siris syndrome 2
  • Aliases:
    • CSS2
    • MRD14
    • autosomal dominant mental retardation 14
Homo sapiens (human)
DOID:1495
  • cystic echinococcosis
  • Aliases:
    • Echinococcus granulosus infection
    • Echinococcus granulosus infection of lung
    • Echinococcus granulosus infection of thyroid
    • Liver echinococcus granulosus
    • Thyroid echinococcus granulosus
    • echinococcus granulosus
    • echinococcus granulosus infectious disease
    • echinococcus granulosus infectious disease of liver
    • echinococcus granulosus infectious disease of thyroid
    • lung echinococcus granulosus
    • unilocular echinococcosis
    • unilocular hydatid disease
Homo sapiens (human)
DOID:0060352
  • Kleefstra syndrome 1
  • Aliases:
    • 9q subtelomeric deletion syndrome
    • 9q-syndrome
    • 9q34 deletion syndrome
Homo sapiens (human)
DOID:0111580
  • Behr syndrome
  • Aliases:
    • Abortive cerebellar ataxia (BEHRS)
    • BEHRS
    • optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
    • optic atrophy, infantile hereditary, Behr complicated form of
Homo sapiens (human)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Homo sapiens (human)
DOID:8252
  • chronic rhinitis
  • Aliases:
    • Rhinitis - chronic
Homo sapiens (human)
DOID:0060576
  • 3MC syndrome 2
Homo sapiens (human)
DOID:2518
  • orchitis
  • Aliases:
    • Inflammation of testis
    • Orchititis
Homo sapiens (human)
DOID:12700
  • hyperprolactinemia
  • Aliases:
    • Chiari-Frommel syndrome
    • Pregnancy-related A-G syndrome
    • hyperprolactinaemia
Homo sapiens (human)
DOID:0111968
  • immunodeficiency 41
  • Aliases:
    • CD25 deficiency
    • IL2RA deficiency
    • IMD41
    • immunodeficiency 41 with lymphoproliferation and autoimmunity
    • immunodeficiency due to CD25 deficiency
    • interleukin-2 receptor alpha chain deficiency
Homo sapiens (human)
DOID:0081048
  • congenital limbs-face contractures-hypotonia-developmental delay syndrome
  • Aliases:
    • CLIFAHDD syndrome
    • congenital contractures of the limbs and face, hypotonia, and developmental delay
Homo sapiens (human)
DOID:0110796
  • hereditary spastic paraplegia 44
  • Aliases:
    • SPG44
    • autosomal recessive spastic paraplegia 44
Homo sapiens (human)
DOID:0070356
  • visual impairment and progressive phthisis bulbi
Homo sapiens (human)
DOID:0111822
  • CHILD syndrome
  • Aliases:
    • CHILD nevus
    • congenital hemidysplasia with ichthyosiform nevus and limbs defects
Homo sapiens (human)
DOID:0050570
  • congenital disorder of glycosylation type I
Homo sapiens (human)
DOID:0110495
  • autosomal recessive nonsyndromic deafness 37
  • Aliases:
    • DFNB37
    • autosomal recessive deafness 37
Homo sapiens (human)
DOID:639
  • acute disseminated encephalomyelitis
  • Aliases:
    • ADEM
    • acute disseminated encephalitis
Homo sapiens (human)
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Last updated: December 9, 2024