GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1376 - 1400 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:11244
  • neonatal anemia
  • Aliases:
    • anaemia neonatal
    • anemia neonatal
    • neonatal anaemia
Homo sapiens (human)
DOID:0050776
  • non-syndromic X-linked intellectual disability
  • Aliases:
    • non-specific X-linked mental retardation
Homo sapiens (human)
DOID:0050696
  • fetal alcohol spectrum disorder
Homo sapiens (human)
DOID:0110278
  • autosomal recessive limb-girdle muscular dystrophy type 2D
  • Aliases:
    • Alpha-sarcoglycanopathy
    • DMDA2
    • Duchenne-like autosomal recessive muscular dystrophy type 2
    • LGMD2D
    • muscular dystrophy, limb-girdle, type 2D
    • primary adhalinopathy
Homo sapiens (human)
DOID:4189
  • mutism
Homo sapiens (human)
DOID:0060046
  • aphasia
Homo sapiens (human)
DOID:0111773
  • 46,XY sex reversal 8
  • Aliases:
    • SRXY8
    • TDD
    • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
Homo sapiens (human)
DOID:13533
  • osteopetrosis
  • Aliases:
    • Albers-Schonberg disease
    • marble bone
Homo sapiens (human)
DOID:1283
  • enterocele
  • Aliases:
    • vaginal enterocele
Homo sapiens (human)
DOID:3261
  • hyper IgE recurrent infection syndrome 1
  • Aliases:
    • Job syndrome
    • Job's syndrome
    • hyperimmunoglobulin E syndrome
Homo sapiens (human)
DOID:0060584
  • Noonan syndrome 6
  • Aliases:
    • NS6
Homo sapiens (human)
DOID:0060581
  • Noonan syndrome 3
  • Aliases:
    • NS3
Homo sapiens (human)
DOID:0070266
  • congenital disorder of glycosylation type IIn
  • Aliases:
    • CDG IIn
    • CDG syndrome type IIn
    • CDG2N
    • CDGIIdn
    • Carbohydrate deficient glycoprotein syndrome type IIn
    • Congenital disorder of glycosylation type 2n
    • SLC39A8-CDG
Homo sapiens (human)
DOID:14110
  • anus cancer
  • Aliases:
    • anal cancer
    • malignant anal tumor
Homo sapiens (human)
DOID:401
  • multidrug-resistant tuberculosis
Homo sapiens (human)
DOID:0110732
  • neuronal ceroid lipofuscinosis 11
  • Aliases:
    • CLN11
Homo sapiens (human)
DOID:13200
  • substernal goiter
  • Aliases:
    • Retrosternal thyroid goiter
    • Retrosternal thyroid goitre
    • substernal goitre
Homo sapiens (human)
DOID:0080365
  • endometrial hyperplasia
Homo sapiens (human)
DOID:14174
  • central neurocytoma
  • Aliases:
    • Neurolipocytoma
Homo sapiens (human)
DOID:0050813
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • Aliases:
    • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
    • CHST3-Related Skeletal Dysplasia
    • Humero-spinal dysostosis with congenital heart disease
    • Kozlowski Celermajer Tink syndrome
    • Omani Type
    • Spondyloepiphyseal Dysplasia
    • humero-spinal dysostosis
    • humerospinal dysostosis
Homo sapiens (human)
DOID:8442
  • paralytic ileus
Homo sapiens (human)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Homo sapiens (human)
DOID:0110292
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • Aliases:
    • LGMD2O
    • MDDGC3
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
    • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Homo sapiens (human)
DOID:0060357
  • chylomicron retention disease
  • Aliases:
    • Anderson disease
    • CMRD
Homo sapiens (human)
DOID:461
  • muscle benign neoplasm
  • Aliases:
    • Myomatous neoplasm
    • Myomatous tumor
    • muscle neoplasm
    • muscle tissue neoplasm
    • neoplasm of muscle
Homo sapiens (human)

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Last updated: August 19, 2024