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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 6976 - 7000 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111136
  • congenital generalized lipodystrophy type 2
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 2
    • Berardinelli-Seip syndrome
    • Brunzell syndrome BSCL2-related
    • CGL2
    • congenital lipoatrophic diabetes
    • total lipodystrophy and acromegaloid gigantism
Homo sapiens (human)
DOID:0111136
  • congenital generalized lipodystrophy type 2
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 2
    • Berardinelli-Seip syndrome
    • Brunzell syndrome BSCL2-related
    • CGL2
    • congenital lipoatrophic diabetes
    • total lipodystrophy and acromegaloid gigantism
Mus musculus (house mouse)
DOID:0111138
  • congenital generalized lipodystrophy type 4
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
    • congenital generalised lipodystrophy type 4
    • generalised congenital lipodystrophy type 4
    • generalised congenital lipodystrophy with myopathy
    • generalized congenital lipodystrophy type 4
    • generalized congenital lipodystrophy with myopathy
Mus musculus (house mouse)
DOID:0111138
  • congenital generalized lipodystrophy type 4
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
    • congenital generalised lipodystrophy type 4
    • generalised congenital lipodystrophy type 4
    • generalised congenital lipodystrophy with myopathy
    • generalized congenital lipodystrophy type 4
    • generalized congenital lipodystrophy with myopathy
Homo sapiens (human)
DOID:0111139
  • mitochondrial complex III deficiency
Homo sapiens (human)
DOID:0111139
  • mitochondrial complex III deficiency
Rattus norvegicus (Norway rat)
DOID:0111140
  • IGSF1 deficiency syndrome
  • Aliases:
    • CHTE
    • X-linked central congenital hypothyroidism with late-onset macroorchidism
    • X-linked central congenital hypothyroidism with late-onset testicular enlargement
    • central hypothyroidism and testicular enlargement
Mus musculus (house mouse)
DOID:0111140
  • IGSF1 deficiency syndrome
  • Aliases:
    • CHTE
    • X-linked central congenital hypothyroidism with late-onset macroorchidism
    • X-linked central congenital hypothyroidism with late-onset testicular enlargement
    • central hypothyroidism and testicular enlargement
Rattus norvegicus (Norway rat)
DOID:0111140
  • IGSF1 deficiency syndrome
  • Aliases:
    • CHTE
    • X-linked central congenital hypothyroidism with late-onset macroorchidism
    • X-linked central congenital hypothyroidism with late-onset testicular enlargement
    • central hypothyroidism and testicular enlargement
Homo sapiens (human)
DOID:0111141
  • delayed sleep phase syndrome
  • Aliases:
    • DSPD
Rattus norvegicus (Norway rat)
DOID:0111141
  • delayed sleep phase syndrome
  • Aliases:
    • DSPD
Mus musculus (house mouse)
DOID:0111141
  • delayed sleep phase syndrome
  • Aliases:
    • DSPD
Homo sapiens (human)
DOID:0111144
  • preterm premature rupture of the membranes
  • Aliases:
    • PPROM
Rattus norvegicus (Norway rat)
DOID:0111144
  • preterm premature rupture of the membranes
  • Aliases:
    • PPROM
Homo sapiens (human)
DOID:0111144
  • preterm premature rupture of the membranes
  • Aliases:
    • PPROM
Mus musculus (house mouse)
DOID:0111149
  • autosomal recessive isolated ectopia lentis 2
  • Aliases:
    • ECTOL2
Mus musculus (house mouse)
DOID:0111149
  • autosomal recessive isolated ectopia lentis 2
  • Aliases:
    • ECTOL2
Homo sapiens (human)
DOID:0111149
  • autosomal recessive isolated ectopia lentis 2
  • Aliases:
    • ECTOL2
Rattus norvegicus (Norway rat)
DOID:0111150
  • autosomal dominant isolated ectopia lentis 1
  • Aliases:
    • ECTOL1
Caenorhabditis elegans
DOID:0111150
  • autosomal dominant isolated ectopia lentis 1
  • Aliases:
    • ECTOL1
Homo sapiens (human)
DOID:0111150
  • autosomal dominant isolated ectopia lentis 1
  • Aliases:
    • ECTOL1
Mus musculus (house mouse)
DOID:0111151
  • Prinzmetal angina
  • Aliases:
    • Prinzmetal's angina
    • Prinzmetal's variant angina
    • angina inversa
    • variant angina
    • variant angina pectoris
Rattus norvegicus (Norway rat)
DOID:0111151
  • Prinzmetal angina
  • Aliases:
    • Prinzmetal's angina
    • Prinzmetal's variant angina
    • angina inversa
    • variant angina
    • variant angina pectoris
Homo sapiens (human)
DOID:0111151
  • Prinzmetal angina
  • Aliases:
    • Prinzmetal's angina
    • Prinzmetal's variant angina
    • angina inversa
    • variant angina
    • variant angina pectoris
Mus musculus (house mouse)
DOID:0111153
  • congenital mirror movement disorder
  • Aliases:
    • familial congenital controlateral synkinesia
    • familial congenital mirror movements
    • hereditary congenital controlateral synkinesia
    • hereditary congenital mirror movements
    • isolated congenital controlateral synkinesia
    • isolated congenital mirror movements
Drosophila melanogaster (fruit fly)
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Last updated: December 9, 2024