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 1801 - 1825 of 4621 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism
DOID:0070264
  • congenital disorder of glycosylation type IIl
  • Aliases:
    • CDG IIl
    • CDG syndrome type IIL
    • CDG2L
    • CDGIIdl
    • COG6-CGD
    • Congenital disorder of glycosylation type 2l
Homo sapiens (human)
DOID:0070265
  • congenital disorder of glycosylation type IIm
  • Aliases:
    • SLC35A2-CDG
    • congenital disorder of glycosylation type 2m
    • developmental and epileptic encephalopathy 22
    • epileptic encephalopathy, early infantile, 22
Homo sapiens (human)
DOID:0070266
  • congenital disorder of glycosylation type IIn
  • Aliases:
    • CDG IIn
    • CDG syndrome type IIn
    • CDG2N
    • CDGIIdn
    • Carbohydrate deficient glycoprotein syndrome type IIn
    • Congenital disorder of glycosylation type 2n
    • SLC39A8-CDG
Homo sapiens (human)
DOID:0070267
  • congenital disorder of glycosylation type IIo
  • Aliases:
    • CCDC115-CDG
    • CDG IIo
    • CDG syndrome type IIo
    • CDG2O
    • CDGIIdo
    • Carbohydrate deficient glycoprotein syndrome type IIo
    • Congenital disorder of glycosylation type 2o
Homo sapiens (human)
DOID:0070268
  • congenital disorder of glycosylation type IIp
  • Aliases:
    • CDG IIp
    • CDG syndrome type IIp
    • CDG2P
    • CDGIIdp
    • Carbohydrate deficient glycoprotein syndrome type IIp
    • Congenital disorder of glycosylation type 2p
    • TMEM199-CDG
Homo sapiens (human)
DOID:0070269
  • congenital disorder of glycosylation type IIq
  • Aliases:
    • CDG IIq
    • CDG2Q
    • CDGIIdq
    • COG2-CDG
    • COG2-related congenital disorder of glycosylation
Homo sapiens (human)
DOID:5212
  • congenital disorder of glycosylation
  • Aliases:
    • carbohydrate-deficient glycoprotein syndrome
Homo sapiens (human)
DOID:0111401
  • congenital dyserythropoietic anemia type II
  • Aliases:
    • CDA II
    • CDA type 2
    • CDA type II
    • CDAN2
    • Congenital dyserythropoietic anaemia type 2
    • Congenital dyserythropoietic anemia type 2
    • Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
    • SEC23B-CDG
    • congenital dyserythropoietic anaemia type II
Homo sapiens (human)
DOID:1338
  • congenital dyserythropoietic anemia
  • Aliases:
    • congenital dyshaematopoietic anaemia
Homo sapiens (human)
DOID:0111135
  • congenital generalized lipodystrophy type 1
  • Aliases:
    • Berardinelli-Seip Congenital Lipodystrophy, Type 1
    • Brunzell syndrome AGPAT2-related
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
Homo sapiens (human)
DOID:0111137
  • congenital generalized lipodystrophy type 3
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 3
Homo sapiens (human)
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:0050585
  • congenital generalized lipodystrophy
Homo sapiens (human)
DOID:990
  • congenital heart block
Homo sapiens (human)
DOID:1682
  • congenital heart disease
  • Aliases:
    • Congenital Heart Defects
    • Congenital anomaly of heart
    • Heart Malformation
    • congenital heart defect
    • heart defect
Homo sapiens (human)
DOID:589
  • congenital hemolytic anemia
  • Aliases:
    • congenital hemolytic anaemia
    • hereditary hemolytic anaemia
    • hereditary hemolytic anemia
Homo sapiens (human)
DOID:14177
  • congenital hypogammaglobulinemia
  • Aliases:
    • Congenital hypogammaglobulinaemia
Homo sapiens (human)
DOID:1342
  • congenital hypoplastic anemia
  • Aliases:
    • congenital aplastic anaemia
    • congenital aplastic anemia
    • congenital hypoplastic anaemia
Homo sapiens (human)
DOID:0050328
  • congenital hypothyroidism
Homo sapiens (human)
DOID:0050734
  • congenital intrinsic factor deficiency
  • Aliases:
    • hereditary intrinsic factor deficiency
Homo sapiens (human)
DOID:0111646
  • congenital lactase deficiency
  • Aliases:
    • CLD
    • congenital alactasia
    • congenital alactasia syndrome
    • congenital lactose intolerance
    • congenital lactose malabsorption
    • disaccharide intolerance II
Homo sapiens (human)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
Homo sapiens (human)
DOID:0060779
  • congenital malabsorptive diarrhea 4
  • Aliases:
    • congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
    • congenital malabsorptive diarrhoea 4
    • congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
    • enteric anendocrinosis
Homo sapiens (human)
DOID:0110636
  • congenital merosin-deficient muscular dystrophy 1A
  • Aliases:
    • CMD1A
    • MDC1A
    • Merosin-negative congenital muscular dystrophy
    • congenital muscular dystrophy due to laminin alpha2 deficiency
Homo sapiens (human)

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Last updated: August 19, 2024