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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 13951 - 13975 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110704
  • hypotrichosis 7
  • Aliases:
    • Hypt7
    • Lah2
    • hypotrichosis, localized, autosomal recessive 2
    • total Mari type hypotrichosis,
Rattus norvegicus (Norway rat)
DOID:5744
  • ovary serous adenocarcinoma
  • Aliases:
    • malignant ovarian serous tumor
    • serous carcinoma of Ovary
Homo sapiens (human)
DOID:0080258
  • autosomal recessive congenital ichthyosis 14
Homo sapiens (human)
DOID:0080440
  • developmental and epileptic encephalopathy 3
  • Aliases:
    • early infantile epileptic encephalopathy 3
Mus musculus (house mouse)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Mus musculus (house mouse)
DOID:0111236
  • congenital muscular dystrophy-dystroglycanopathy type A3
  • Aliases:
    • MDDGA3
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Mus musculus (house mouse)
DOID:0110292
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • Aliases:
    • LGMD2O
    • MDDGC3
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
    • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Mus musculus (house mouse)
DOID:0060276
  • pontocerebellar hypoplasia type 7
Mus musculus (house mouse)
DOID:0060264
  • pontocerebellar hypoplasia
  • Aliases:
    • PCH
Mus musculus (house mouse)
DOID:0111480
  • combined oxidative phosphorylation deficiency 10
  • Aliases:
    • COXPD10
    • infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
    • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mus musculus (house mouse)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Mus musculus (house mouse)
DOID:0080573
  • congenital disorder of glycosylation Ix
  • Aliases:
    • congenital disorder of glycosylation 1x
Mus musculus (house mouse)
DOID:0081350
  • congenital myopathy 18
Rattus norvegicus (Norway rat)
DOID:0112262
  • leucine-sensitive hypoglycemia of infancy
  • Aliases:
    • LIH
    • leucine-induced hypoglycemia
Homo sapiens (human)
DOID:0060334
  • transient neonatal diabetes mellitus
Homo sapiens (human)
DOID:0070219
  • familial hyperinsulinemic hypoglycemia 1
  • Aliases:
    • HHF1
Homo sapiens (human)
DOID:0110187
  • Charcot-Marie-Tooth disease type 4K
  • Aliases:
    • CMT4K
    • SURF1-related CMT4
    • SURF1-related Charcot-Marie-Tooth disease type 4
    • SURF1-related severe demyelinating Charcot-Marie-Tooth disease
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
    • autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
Homo sapiens (human)
DOID:0070491
  • mitochondrial complex IV deficiency nuclear type 1
  • Aliases:
    • MC4DN1
Homo sapiens (human)
DOID:0112139
  • nuclear type mitochondrial complex I deficiency 35
  • Aliases:
    • MC1DN35
Mus musculus (house mouse)
DOID:0112108
  • myofibrillar myopathy 10
  • Aliases:
    • MFM10
Homo sapiens (human)
DOID:0112136
  • severe congenital neutropenia 4
  • Aliases:
    • Dursun syndrome
    • SCN4
    • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Mus musculus (house mouse)
DOID:0050717
  • methylmalonic aciduria and homocystinuria type cblF
  • Aliases:
    • Cobalamin F deficiency
    • MAHCF
Mus musculus (house mouse)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
Rattus norvegicus (Norway rat)
DOID:0111420
  • familial GPIHBP1 deficiency
  • Aliases:
    • familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
    • hyperlipoproteinemia type 1D
    • hyperlipoproteinemia type ID
Mus musculus (house mouse)
DOID:0112332
  • pontocerebellar hypoplasia type 13
  • Aliases:
    • PCH13
Mus musculus (house mouse)
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Last updated: December 9, 2024