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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 7701 - 7725 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111620
  • corneal dystrophy-perceptive deafness syndrome
  • Aliases:
    • CDPD
    • CDPD1
    • Harboyan syndrome
    • corneal dystrophy and perceptive deafness
    • corneal dystrophy with progressive deafness
    • corneal endothelial dystrophy and perceptive deafness
Homo sapiens (human)
DOID:0111620
  • corneal dystrophy-perceptive deafness syndrome
  • Aliases:
    • CDPD
    • CDPD1
    • Harboyan syndrome
    • corneal dystrophy and perceptive deafness
    • corneal dystrophy with progressive deafness
    • corneal endothelial dystrophy and perceptive deafness
Mus musculus (house mouse)
DOID:0111621
  • Temtamy syndrome
  • Aliases:
    • Temtamy-Shalash syndrome
    • craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
    • craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
    • dysmorphism, corpus callosum agenesis and colobomas
Mus musculus (house mouse)
DOID:0111623
  • ACTH-independent macronodular adrenal hyperplasia 1
  • Aliases:
    • AIMAH1
Homo sapiens (human)
DOID:0111623
  • ACTH-independent macronodular adrenal hyperplasia 1
  • Aliases:
    • AIMAH1
Mus musculus (house mouse)
DOID:0111625
  • ventriculomegaly - cystic kidney disease
  • Aliases:
    • VMCKD
    • congenital nephrosis-cerebral ventriculomegaly syndrome
    • cystic kidney disease with ventriculomegaly
    • ventriculomegaly with cystic kidney disease
Mus musculus (house mouse)
DOID:0111625
  • ventriculomegaly - cystic kidney disease
  • Aliases:
    • VMCKD
    • congenital nephrosis-cerebral ventriculomegaly syndrome
    • cystic kidney disease with ventriculomegaly
    • ventriculomegaly with cystic kidney disease
Homo sapiens (human)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
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
Homo sapiens (human)
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:0111628
  • high myopia-sensorineural deafness syndrome
  • Aliases:
    • DFNMYP
    • deafness and myopia
    • deafness and myopia syndrome
Homo sapiens (human)
DOID:0111629
  • dihydropyrimidinase deficiency
  • Aliases:
    • DPH deficiency
    • DPYS deficiency
    • DPYSD
    • dihydropyrimidinuria
Mus musculus (house mouse)
DOID:0111630
  • familial erythrocytosis 8
  • Aliases:
    • BPGM deficiency
    • DPGM deficiency
    • ECYT8
    • bisphosphoglycerate mutase deficiency
    • bisphosphoglyceromutase deficiency
    • diphosphoglycerate mutase deficiency of erythrocyte
    • hemolytic anemia due to diphosphoglycerate mutase deficiency
Homo sapiens (human)
DOID:0111630
  • familial erythrocytosis 8
  • Aliases:
    • BPGM deficiency
    • DPGM deficiency
    • ECYT8
    • bisphosphoglycerate mutase deficiency
    • bisphosphoglyceromutase deficiency
    • diphosphoglycerate mutase deficiency of erythrocyte
    • hemolytic anemia due to diphosphoglycerate mutase deficiency
Saccharomyces cerevisiae S288C
DOID:0111630
  • familial erythrocytosis 8
  • Aliases:
    • BPGM deficiency
    • DPGM deficiency
    • ECYT8
    • bisphosphoglycerate mutase deficiency
    • bisphosphoglyceromutase deficiency
    • diphosphoglycerate mutase deficiency of erythrocyte
    • hemolytic anemia due to diphosphoglycerate mutase deficiency
Mus musculus (house mouse)
DOID:0111631
  • familial erythrocytosis 7
  • Aliases:
    • ECYT7
    • alpha-globin type erythrocytosis
    • alpha-globin type polycythemia
Homo sapiens (human)
DOID:0111632
  • familial erythrocytosis 6
  • Aliases:
    • ECYT6
    • beta-globin type erythrocytosis
    • beta-globin type polycythemia
Homo sapiens (human)
DOID:0111633
  • congenital sucrase-isomaltase deficiency
  • Aliases:
    • CSID
    • SI deficiency
    • congenital sucrase-isomaltose malabsorption
    • congenital sucrose intolerance
    • disaccharide intolerance
Homo sapiens (human)
DOID:0111633
  • congenital sucrase-isomaltase deficiency
  • Aliases:
    • CSID
    • SI deficiency
    • congenital sucrase-isomaltose malabsorption
    • congenital sucrose intolerance
    • disaccharide intolerance
Mus musculus (house mouse)
DOID:0111634
  • autosomal recessive nonsyndromic deafness 99
  • Aliases:
    • DFNB99
    • autosomal recessive deafness 99
Danio rerio (zebrafish)
DOID:0111634
  • autosomal recessive nonsyndromic deafness 99
  • Aliases:
    • DFNB99
    • autosomal recessive deafness 99
Homo sapiens (human)
DOID:0111634
  • autosomal recessive nonsyndromic deafness 99
  • Aliases:
    • DFNB99
    • autosomal recessive deafness 99
Mus musculus (house mouse)
DOID:0111635
  • autosomal recessive nonsyndromic deafness 57
  • Aliases:
    • DFNB57
    • autosomal recessive deafness 57
Homo sapiens (human)
DOID:0111636
  • autosomal recessive nonsyndromic deafness 113
  • Aliases:
    • DFNB113
    • autosomal recessive deafness 113
Mus musculus (house mouse)
DOID:0111636
  • autosomal recessive nonsyndromic deafness 113
  • Aliases:
    • DFNB113
    • autosomal recessive deafness 113
Homo sapiens (human)
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Last updated: December 9, 2024