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 3001 - 3025 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0070300
  • multiple epiphyseal dysplasia 4
  • Aliases:
    • EDM4
    • MED4
    • Polyepiphyseal dysplasia type 4
    • multiple epiphyseal dysplasia with bilateral patellae
    • multiple epiphyseal dysplasia with clubfoot
    • rMED
Homo sapiens (human)
DOID:883
  • parasitic helminthiasis infectious disease
  • Aliases:
    • helminth infection
    • helminthiasis
    • helminthosis
    • worm infection
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:0060074
  • ductal carcinoma in situ
Homo sapiens (human)
DOID:890
  • mitochondrial encephalomyopathy
Homo sapiens (human)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Homo sapiens (human)
DOID:0080127
  • mitochondrial DNA depletion syndrome 8a
  • Aliases:
    • RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Homo sapiens (human)
DOID:0070331
  • mitochondrial DNA depletion syndrome 8b
  • Aliases:
    • mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
Homo sapiens (human)
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Homo sapiens (human)
DOID:0080123
  • mitochondrial DNA depletion syndrome 4b
  • Aliases:
    • mitochondrial neurogastrointestinal encephalopathy syndrome
Homo sapiens (human)
DOID:0090045
  • childhood onset GLUT1 deficiency syndrome 2
Homo sapiens (human)
DOID:200
  • benign giant cell tumor
Homo sapiens (human)
DOID:1388
  • Tangier disease
  • Aliases:
    • familial alpha-lipoprotein deficiency
    • familial high density lipoprotein deficiency
Homo sapiens (human)
DOID:1390
  • hypobetalipoproteinemia
  • Aliases:
    • Hypo-beta-lipoproteinemia
Homo sapiens (human)
DOID:0050766
  • choreaacanthocytosis
  • Aliases:
    • Levine-Critchley syndrome
    • choreo-acanthocytosis
Homo sapiens (human)
DOID:1387
  • hypolipoproteinemia
  • Aliases:
    • Hypolipoproteinaemia
Homo sapiens (human)
DOID:1386
  • abetalipoproteinemia
  • Aliases:
    • familial hypobetalipoproteinemia
    • microsomal triglyceride transfer protein deficiency disease
Homo sapiens (human)
DOID:1391
  • Norum disease
  • Aliases:
    • LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
    • lecithin acyltransferase deficiency
Homo sapiens (human)
DOID:0060252
  • sclerocornea
  • Aliases:
    • isolated congenital sclerocornea
Homo sapiens (human)
DOID:0111062
  • familial hypobetalipoproteinemia 1
  • Aliases:
    • FHBL1
Homo sapiens (human)
DOID:0111060
  • Ambras type hypertrichosis universalis congenita
  • Aliases:
    • Ambras syndrome
    • HTC1
Homo sapiens (human)
DOID:0080759
  • Fanconi renotubular syndrome 3
Homo sapiens (human)

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Last updated: August 19, 2024