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 1951 - 1975 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:13533
  • osteopetrosis
  • Aliases:
    • Albers-Schonberg disease
    • marble bone
Homo sapiens (human)
DOID:4254
  • osteosclerosis
Homo sapiens (human)
DOID:0110946
  • autosomal recessive osteopetrosis 7
  • Aliases:
    • OPTB7
    • autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • autosomal recessive osteopetrosis type 7
    • osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • osteopetrosis-hypogammaglobulinemia syndrome
Homo sapiens (human)
DOID:2977
  • primary hyperoxaluria
Homo sapiens (human)
DOID:13725
  • beriberi
Homo sapiens (human)
DOID:0070313
  • thiamine deficiency disease
Homo sapiens (human)
DOID:0111350
  • Laurin-Sandrow syndrome
  • Aliases:
    • MIPduplication of fibuland ulna with absence of tibia and radius
    • Sandrow syndrome
    • TMIP
    • miccor hands and feet with nasal defects
    • mirror hands and feets-nasal defects syndrome
    • mirror-image polydactyly
    • tetramelic mirror-image polydactyly
Homo sapiens (human)
DOID:2491
  • sensory peripheral neuropathy
  • Aliases:
    • peripheral Sensory Neuropathy
    • sensory neuropathy
Homo sapiens (human)
DOID:0070162
  • hereditary sensory and autonomic neuropathy type 1
  • Aliases:
    • HSAN1
    • hereditary sensory and autonomic neuropathy type I
Homo sapiens (human)
DOID:0050548
  • hereditary sensory neuropathy
  • Aliases:
    • familial dysautonomia, type II
    • hereditary sensory and autonomic neuropathy
Homo sapiens (human)
DOID:0070152
  • hereditary sensory and autonomic neuropathy type 1A
  • Aliases:
    • HSAN1A
    • hereditary sensory and autonomic neuropathy type IA
Homo sapiens (human)
DOID:4232
  • extraosseous Ewing sarcoma
  • Aliases:
    • extraosseous Ewing's sarcoma
    • extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor
    • extraskeletal Ewing sarcom
Homo sapiens (human)
DOID:4985
  • extraosseous Ewings sarcoma-primitive neuroepithelial tumor
  • Aliases:
    • extraosseous Ewing's tumor
    • extraosseous Ewing's tumour
    • extraosseous Ewings sarcoma-primitive neuroepithelial tumour
Homo sapiens (human)
DOID:0111670
  • primary hyperoxaluria type 1
  • Aliases:
    • HP1
    • alanine-glyoxylate aminotransferase deficiency
    • glycolic aciduria
    • hepatic AGT deficiency
    • oxalosis I
    • peroxisomal alanine-glyoxylate aminotransferase deficiency
    • serine pyruvate aminotransferase deficiency
Homo sapiens (human)
DOID:8454
  • riboflavin deficiency
  • Aliases:
    • ariboflavinosis
    • vitamin B2 deficiency
Homo sapiens (human)
DOID:9206
  • Barrett's esophagus
  • Aliases:
    • Barrett esophagus
    • Barrett's esophagus with esophagitis
    • Barrett's oesophagus
    • Barrett's ulcer of esophagus
    • Barretts syndrome
    • ulcerative esophagitis
Homo sapiens (human)
DOID:4914
  • esophagus adenocarcinoma
  • Aliases:
    • Oesophageal adenocarcinoma
Homo sapiens (human)
DOID:11994
  • atrophy of testis
Homo sapiens (human)
DOID:5075
  • myxopapillary ependymoma
Homo sapiens (human)
DOID:5504
  • tanycytic ependymoma
Homo sapiens (human)
DOID:5505
  • papillary ependymoma
Homo sapiens (human)
DOID:5500
  • cellular ependymoma
Homo sapiens (human)
DOID:4844
  • benign ependymoma
  • Aliases:
    • WHO grade II Ependymal tumor
    • epithelial ependymoma
Homo sapiens (human)
DOID:5509
  • childhood ependymoma
Homo sapiens (human)
DOID:14080
  • glucocorticoid-remediable aldosteronism
  • Aliases:
    • GRA
    • GRS
    • familial hyperaldosteronism type I
    • glucocorticoid-suppressible hyperaldosteronism
Homo sapiens (human)

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Last updated: August 19, 2024