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 July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1501 - 1525 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:3502
  • ampulla of Vater adenocarcinoma
  • Aliases:
    • ampullary adenocarcinoma
Homo sapiens (human)
DOID:10907
  • microcephaly
  • Aliases:
    • Microcephalus
    • microencephaly
Homo sapiens (human)
DOID:0060802
  • syndromic X-linked intellectual disability Snyder type
  • Aliases:
    • SRS
    • Snyder-Robinson mental retardation syndrome
    • Snyder-Robinson syndrome
    • mental retardation, X-linked, Snyder-Robinson type
    • spermine synthase deficiency
Homo sapiens (human)
DOID:0080356
  • IgG4-related disease
Homo sapiens (human)
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Homo sapiens (human)
DOID:0060479
  • Shwachman-Diamond syndrome
  • Aliases:
    • Shwachman syndrome
    • Shwachman-Bodian-Diamond syndrome
    • Shwachman-Diamond type metaphyseal dysplasia
    • pancreatic insufficiency and bone marrow dysfunction
Homo sapiens (human)
DOID:0111239
  • congenital muscular dystrophy-dystroglycanopathy type A10
  • Aliases:
    • MDDGA10
    • Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
Homo sapiens (human)
DOID:12305
  • Bloch-Sulzberger syndrome
  • Aliases:
    • Incontinentia pigmenti
    • Incontinentia pigmenti syndrome
Homo sapiens (human)
DOID:950
  • dacryoadenitis
Homo sapiens (human)
DOID:14268
  • sclerosing cholangitis
  • Aliases:
    • fibrosing cholangitis
Homo sapiens (human)
DOID:1227
  • neutropenia
Homo sapiens (human)
DOID:418
  • systemic scleroderma
  • Aliases:
    • Scleroderma
    • Scleroderma syndrome
    • progressive systemic sclerosis
    • systemic sclerosis
Homo sapiens (human)
DOID:0112251
  • Ghosal hematodiaphyseal syndrome
  • Aliases:
    • Ghosal hematodiaphyseal dysplasia
    • Ghosal syndrome
    • diaphyseal dysplasia-anemia syndrome
Homo sapiens (human)
DOID:8778
  • Crohn's disease
  • Aliases:
    • Crohn disease
    • Crohn's disease of colon
    • Crohn's disease of large bowel
    • Granulomatous Colitis
    • Pediatric Crohn's disease
Homo sapiens (human)
DOID:0050865
  • tongue squamous cell carcinoma
Homo sapiens (human)
DOID:11701
  • selective IgA deficiency disease
  • Aliases:
    • Immunoglobulin A deficiency
    • Selective immunoglobulin A deficiency
    • selective IgA immunodeficiency
Homo sapiens (human)
DOID:0080001
  • bone disease
Homo sapiens (human)
DOID:0110348
  • osteogenesis imperfecta type 12
  • Aliases:
    • OI12
    • osteogenesis imperfecta type XII
Homo sapiens (human)
DOID:0060280
  • primary pigmented nodular adrenocortical disease
Homo sapiens (human)
DOID:0060814
  • Wilson-Turner syndrome
  • Aliases:
    • MRXS6
    • WTS
    • X-linked intellectual disability-gynecomastia-obesity syndrome
    • mental retardation, X-linked, syndromic 6
    • mental retardation, X-linked, with gynecomastia and obesity
Homo sapiens (human)
DOID:0110795
  • hereditary spastic paraplegia 43
  • Aliases:
    • SPG43
    • autosomal recessive spastic paraplegia 43
    • autosomal recessive spastic paraplegia type 43
Homo sapiens (human)
DOID:11166
  • Human papillomavirus infectious disease
  • Aliases:
    • HPV
Homo sapiens (human)
DOID:0111064
  • autosomal recessive distal hereditary motor neuronopathy 1
  • Aliases:
    • DSMA1
    • SIANRF
    • SMARD1
    • autosomal recessive distal spinal muscular atrophy 1
    • autosomal recessive spinal muscular atrophy with respiratory distress
    • dHMN6
    • diaphragmatic spinal muscular atrophy
    • distal hereditary motor neuropathy type 6
    • distal spinal muscular atrophy 1
    • distal-HMN type 6
    • severe infantile axonal neuropathy with respiratory failure type 1
    • spinal muscular atrophy with respiratory distress type 1
Homo sapiens (human)
DOID:0110948
  • Waardenburg syndrome type 1
  • Aliases:
    • WS1
    • Waardenburg syndrome type I
Homo sapiens (human)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Homo sapiens (human)

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Last updated: August 19, 2024