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 1076 - 1100 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0060853
  • Potocki-Lupski syndrome
  • Aliases:
    • 17p11.2 microduplication syndrome
    • chromosome 17p11.2 duplication syndrome
    • trisomy 17p11.2
Homo sapiens (human)
DOID:0080547
  • metabolic dysfunction-associated steatohepatitis
  • Aliases:
    • MASH
    • NASH
    • non-alcoholic steatohepatitis
    • nonalcoholic steatohepatitis
Mus musculus (house mouse)
DOID:863
  • nervous system disease
Homo sapiens (human)
DOID:0050941
  • spastic ataxia 2
Homo sapiens (human)
DOID:3389
  • Papillon-Lefevre disease
  • Aliases:
    • Papillon Lefevre syndrome
    • Papillon-Lefvre syndrome
Homo sapiens (human)
DOID:0070398
  • hypomyelinating leukodystrophy 15
  • Aliases:
    • HLD15
Mus musculus (house mouse)
DOID:1686
  • glaucoma
Mus musculus (house mouse)
DOID:0060246
  • MASA syndrome
  • Aliases:
    • CRASH syndrome
    • Gareis-Mason syndrome
    • L1 syndrome
    • SPG1
    • X-linked complicated hereditary spastic paraplegia type 1
    • X-linked corpus callosum agenesis
    • X-linked spastic paraplegia 1
    • hereditary spastic paraplegia 1
Homo sapiens (human)
DOID:2058
  • chronic mucocutaneous candidiasis
Homo sapiens (human)
DOID:0111287
  • psoriasis 13
  • Aliases:
    • PSORS13
Homo sapiens (human)
DOID:3748
  • esophagus squamous cell carcinoma
  • Aliases:
    • SCC of esophagus
    • SCC of oesophagus
    • oesophagus squamous cell carcinoma
Homo sapiens (human)
DOID:6039
  • uveal melanoma
  • Aliases:
    • melanoma of Uvea
Homo sapiens (human)
DOID:0081226
  • autosomal recessive intellectual developmental disorder 65
Homo sapiens (human)
DOID:0060809
  • syndromic X-linked intellectual disability Claes-Jensen type
  • Aliases:
    • MRXSCJ
    • MRXSJ
    • mental retardation, X-linked, syndromic, Claes-Jensen type
    • syndromic X-linked intellectual disability due to JARID1C mutation
    • syndromic X-linked mental retardation JARID1C-related
Homo sapiens (human)
DOID:12241
  • beta thalassemia
Homo sapiens (human)
DOID:1826
  • epilepsy
  • Aliases:
    • epilepsy syndrome
    • epileptic syndrome
Mus musculus (house mouse)
DOID:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Mus musculus (house mouse)
DOID:2477
  • motor peripheral neuropathy
  • Aliases:
    • HSMN
    • HSMN - Hereditary sensory and motor neuropathy
    • Hereditary motor and sensory neuropathy
    • Peripheral Motor Neuropathy
    • neuropathic muscular atrophy
Mus musculus (house mouse)
DOID:0060041
  • autism spectrum disorder
Mus musculus (house mouse)
DOID:3069
  • malignant astrocytoma
  • Aliases:
    • Astrocytic tumor
    • astrocytoma of Cerebrum
    • astrocytoma of brain
    • astroglioma
    • cerebral astrocytoma
Mus musculus (house mouse)
DOID:4450
  • renal cell carcinoma
  • Aliases:
    • RCC
    • adenocarcinoma of kidney
    • hypernephroma
Mus musculus (house mouse)
DOID:3008
  • invasive ductal carcinoma
  • Aliases:
    • Infiltrating ductal carcinoma of breast
    • Invasive ductal carcinoma, NST
    • ductal adenocarcinoma
Mus musculus (house mouse)
DOID:3068
  • glioblastoma
  • Aliases:
    • GBM
    • adult glioblastoma multiforme
    • glioblastoma multiforme
    • grade IV adult Astrocytic tumor
    • primary glioblastoma multiforme
    • spongioblastoma multiforme
Mus musculus (house mouse)
DOID:4074
  • pancreatic adenocarcinoma
  • Aliases:
    • pancreas adenocarcinoma
Mus musculus (house mouse)
DOID:13189
  • gout
  • Aliases:
    • Articular gout
    • Gouty arthropathy
    • gouty arthritis
Homo sapiens (human)

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Last updated: December 9, 2024