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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 13276 - 13300 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0070216
  • familial hyperinsulinemic hypoglycemia 3
  • Aliases:
    • HHF3
    • hyperinsulinemic hypoglycemia due to glucokinase deficiency
    • hyperinsulinism due to glucokinase deficiency
Mus musculus (house mouse)
DOID:0070216
  • familial hyperinsulinemic hypoglycemia 3
  • Aliases:
    • HHF3
    • hyperinsulinemic hypoglycemia due to glucokinase deficiency
    • hyperinsulinism due to glucokinase deficiency
Homo sapiens (human)
DOID:0070215
  • familial hyperinsulinemic hypoglycemia 4
  • Aliases:
    • HHF4
    • hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
    • hyperinsulinism due to SCHAD deficiency
    • hyperinsulinism due to glutamodehydrogenase deficiency
    • hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Rattus norvegicus (Norway rat)
DOID:0070215
  • familial hyperinsulinemic hypoglycemia 4
  • Aliases:
    • HHF4
    • hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
    • hyperinsulinism due to SCHAD deficiency
    • hyperinsulinism due to glutamodehydrogenase deficiency
    • hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Homo sapiens (human)
DOID:0070214
  • familial hyperinsulinemic hypoglycemia 7
  • Aliases:
    • EIHI
    • HHF7
    • exercise-induced hyperinsulinemic hypoglycemia
    • exercise-induced hyperinsulinism
    • hyperinsulinism due to SLC16A1 deficiency
    • hyperinsulinism due to monocarboxylate transporter 1 deficiency
Saccharomyces cerevisiae S288C
DOID:0070210
  • hereditary lymphedema IA
  • Aliases:
    • LMPH1A
Homo sapiens (human)
DOID:0070210
  • hereditary lymphedema IA
  • Aliases:
    • LMPH1A
Caenorhabditis elegans
DOID:0070210
  • hereditary lymphedema IA
  • Aliases:
    • LMPH1A
Mus musculus (house mouse)
DOID:0070210
  • hereditary lymphedema IA
  • Aliases:
    • LMPH1A
Rattus norvegicus (Norway rat)
DOID:0070209
  • hereditary lymphedema ID
  • Aliases:
    • LMPH1D
Mus musculus (house mouse)
DOID:0070209
  • hereditary lymphedema ID
  • Aliases:
    • LMPH1D
Homo sapiens (human)
DOID:0070209
  • hereditary lymphedema ID
  • Aliases:
    • LMPH1D
Rattus norvegicus (Norway rat)
DOID:0070208
  • hereditary lymphedema IC
  • Aliases:
    • LMPH1C
Homo sapiens (human)
DOID:0070205
  • familial partial lipodystrophy type 4
  • Aliases:
    • FPLD4
    • PLIN1-related FPLD
    • PLIN1-related familial partial lipodystrophy
    • familial partial lipodystrophy associated with PLIN1 mutations
Mus musculus (house mouse)
DOID:0070205
  • familial partial lipodystrophy type 4
  • Aliases:
    • FPLD4
    • PLIN1-related FPLD
    • PLIN1-related familial partial lipodystrophy
    • familial partial lipodystrophy associated with PLIN1 mutations
Homo sapiens (human)
DOID:0070204
  • familial partial lipodystrophy type 3
  • Aliases:
    • FPLD3
    • PPARG-related FPLD
    • PPARG-related familial partial lipodystrophy
    • familial partial lipodystrophy associated with PPARG mutations
Mus musculus (house mouse)
DOID:0070204
  • familial partial lipodystrophy type 3
  • Aliases:
    • FPLD3
    • PPARG-related FPLD
    • PPARG-related familial partial lipodystrophy
    • familial partial lipodystrophy associated with PPARG mutations
Rattus norvegicus (Norway rat)
DOID:0070204
  • familial partial lipodystrophy type 3
  • Aliases:
    • FPLD3
    • PPARG-related FPLD
    • PPARG-related familial partial lipodystrophy
    • familial partial lipodystrophy associated with PPARG mutations
Homo sapiens (human)
DOID:0070202
  • familial partial lipodystrophy type 2
  • Aliases:
    • FPLD2
    • familial lipodystrophy of limbs and lower trunk
    • familial partial lipodystrophy Dunnigan type
    • reverse partial lipodystrophy
Homo sapiens (human)
DOID:0070202
  • familial partial lipodystrophy type 2
  • Aliases:
    • FPLD2
    • familial lipodystrophy of limbs and lower trunk
    • familial partial lipodystrophy Dunnigan type
    • reverse partial lipodystrophy
Mus musculus (house mouse)
DOID:0070202
  • familial partial lipodystrophy type 2
  • Aliases:
    • FPLD2
    • familial lipodystrophy of limbs and lower trunk
    • familial partial lipodystrophy Dunnigan type
    • reverse partial lipodystrophy
Rattus norvegicus (Norway rat)
DOID:0070201
  • Miyoshi muscular dystrophy 3
  • Aliases:
    • MMD3
    • Miyoshi myopathy 3
Homo sapiens (human)
DOID:0070201
  • Miyoshi muscular dystrophy 3
  • Aliases:
    • MMD3
    • Miyoshi myopathy 3
Mus musculus (house mouse)
DOID:0070199
  • Miyoshi muscular dystrophy 1
  • Aliases:
    • MMD1
    • Miyoshi myopathy 1
Mus musculus (house mouse)
DOID:0070197
  • distal myopathy 1
  • Aliases:
    • Distal myopathy type 1
    • Gowers disease
    • Laing distal myopathy
    • Laing early-onset distal myopathy
    • MPD1
Homo sapiens (human)
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Last updated: December 9, 2024