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 251 - 275 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Xenopus laevis (African clawed frog)
DOID:9975
  • cocaine dependence
Xenopus laevis (African clawed frog)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Xenopus laevis (African clawed frog)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Xenopus laevis (African clawed frog)
DOID:9952
  • acute lymphoblastic leukemia
  • Aliases:
    • ALL
    • acute lymphoblastic leukaemia
    • acute lymphocytic leukaemia
    • precursor lymphoblastic lymphoma/leukemia
Xenopus laevis (African clawed frog)
DOID:0080414
  • developmental and epileptic encephalopathy 15
  • Aliases:
    • DEE15
    • early infantile epileptic encephalopathy 15
Xenopus laevis (African clawed frog)
DOID:14735
  • hereditary angioedema
  • Aliases:
    • HANE
    • Hereditary angioneurotic edema
Xenopus laevis (African clawed frog)
DOID:0110274
  • autosomal recessive limb-girdle muscular dystrophy
Xenopus laevis (African clawed frog)
DOID:8947
  • diabetic retinopathy
  • Aliases:
    • Retinal abnormality - diabetes-related
Xenopus laevis (African clawed frog)
DOID:0112380
  • muscular dystrophy-dystroglycanopathy type B2
  • Aliases:
    • MDDGB2
    • congenital muscular dystrophy POMT2-related
Xenopus laevis (African clawed frog)
DOID:0110777
  • hereditary spastic paraplegia 26
  • Aliases:
    • GM2 synthase deficiency
    • SPG26
    • autosomal recessive spastic paraplegia 26
    • autosomal recessive spastic paraplegia type 26
Xenopus laevis (African clawed frog)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Xenopus laevis (African clawed frog)
DOID:0110298
  • autosomal recessive limb-girdle muscular dystrophy type 2N
  • Aliases:
    • LGMD2N
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
    • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Xenopus laevis (African clawed frog)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Xenopus laevis (African clawed frog)
DOID:0111230
  • congenital muscular dystrophy-dystroglycanopathy type A11
  • Aliases:
    • MDDGA11
    • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Xenopus laevis (African clawed frog)
DOID:0050579
  • glycogen storage disease XV
  • Aliases:
    • Glycogen storage disease 15
    • Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
    • glycogen storage disease type XV
Xenopus laevis (African clawed frog)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Xenopus laevis (African clawed frog)
DOID:4450
  • renal cell carcinoma
  • Aliases:
    • RCC
    • adenocarcinoma of kidney
    • hypernephroma
Xenopus laevis (African clawed frog)
DOID:0110443
  • dilated cardiomyopathy 1B
Xenopus laevis (African clawed frog)
DOID:0050571
  • congenital disorder of glycosylation type II
Xenopus laevis (African clawed frog)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Xenopus laevis (African clawed frog)
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Xenopus laevis (African clawed frog)
DOID:0110741
  • type 1 diabetes mellitus 2
  • Aliases:
    • IDDM2
    • Insulin-Dependent Diabetes Mellitus 2
Xenopus laevis (African clawed frog)
DOID:1240
  • leukemia
Xenopus laevis (African clawed frog)
DOID:594
  • panic disorder
  • Aliases:
    • panic anxiety syndrome
Xenopus laevis (African clawed frog)

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Last updated: August 19, 2024