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 4176 - 4200 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0060263
  • porencephaly
Homo sapiens (human)
DOID:0060576
  • 3MC syndrome 2
Homo sapiens (human)
DOID:0060575
  • 3MC syndrome 1
Homo sapiens (human)
DOID:0060225
  • 3MC syndrome
  • Aliases:
    • craniofacial-ulnar-renal syndrome
    • oculopalatoskeletal syndrome
Homo sapiens (human)
DOID:0060577
  • 3MC syndrome 3
Homo sapiens (human)
DOID:0070298
  • multiple epiphyseal dysplasia 2
  • Aliases:
    • EDM2
Homo sapiens (human)
DOID:8125
  • osteochondrosis
  • Aliases:
    • Epiphyseal necrosis
    • apophysitis
    • epiphysitis
    • osteochondritis
    • osteochondritis juvenilis
Homo sapiens (human)
DOID:7489
  • Osgood-Schlatter's disease
  • Aliases:
    • Osgood-Schlatter disease
    • Osteochondritis of tibial tubercle
    • Osteochondrosis of proximal tibia
    • juvenile osteochondrosis of tibial tubercle
Homo sapiens (human)
DOID:0110029
  • alpha thalassemia-intellectual disability syndrome type 1
  • Aliases:
    • ATR syndrome linked to chromosome 16
    • ATR syndrome, deletion type
    • ATR-16 syndrome
    • alpha thalassemia-intellectual disability syndrome, deletion type
    • alpha thalassemia-retardation syndrome
    • alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
    • alpha-thalassemia/mental retardation syndrome, deletion-type
    • alpha-thalassemia/mental retardation syndrome, type 1
Homo sapiens (human)
DOID:0110031
  • hemoglobin H disease
  • Aliases:
    • HBH
    • alpha thalassemia, haemoglobin H type
    • alpha thalassemia, hemoglobin H type
    • alpha-thalassemia intermedia
    • haemoglobin H disease
    • haemoglobin H disease, deletional
    • hemoglobin H disease, deletional
Homo sapiens (human)
DOID:0110030
  • alpha thalassemia-X-linked intellectual disability syndrome
  • Aliases:
    • ATR, nondeletion type
    • ATR-X syndrome
    • alpha-thalassemia/mental retardation syndrome nondeletion type
Homo sapiens (human)
DOID:1099
  • alpha thalassemia
  • Aliases:
    • Alpha thalassaemia
    • alpha-Thalassemia
Homo sapiens (human)
DOID:0050663
  • Bethlem myopathy
  • Aliases:
    • benign congenital muscular dystrophy
Homo sapiens (human)
DOID:0050558
  • Ullrich congenital muscular dystrophy
  • Aliases:
    • ULLRICH DISEASE
    • Ullrich scleroatonic muscular dystrophy
Homo sapiens (human)
DOID:0070260
  • congenital disorder of glycosylation type IIh
  • Aliases:
    • CDG IIh
    • CDG2H
    • CDGIIdh
    • COG8-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIh
    • Congenital disorder of glycosylation type 2h
Saccharomyces cerevisiae S288C
DOID:0070260
  • congenital disorder of glycosylation type IIh
  • Aliases:
    • CDG IIh
    • CDG2H
    • CDGIIdh
    • COG8-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIh
    • Congenital disorder of glycosylation type 2h
Homo sapiens (human)
DOID:9888
  • alternating esotropia
Homo sapiens (human)
DOID:0070257
  • congenital disorder of glycosylation type IIe
  • Aliases:
    • CDG IIe
    • CDG syndrome type IIe
    • CDG2E
    • CDGIIde
    • COG7-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIe
Homo sapiens (human)
DOID:630
  • genetic disease
Homo sapiens (human)
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
Saccharomyces cerevisiae S288C
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:0070261
  • congenital disorder of glycosylation type IIi
  • Aliases:
    • CDG IIi
    • CDG syndrome type IIi
    • CDG2I
    • CDGIIdi
    • COG5-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIi
    • Congenital disorder of glycosylation type 2i
Saccharomyces cerevisiae S288C
DOID:0070261
  • congenital disorder of glycosylation type IIi
  • Aliases:
    • CDG IIi
    • CDG syndrome type IIi
    • CDG2I
    • CDGIIdi
    • COG5-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIi
    • Congenital disorder of glycosylation type 2i
Homo sapiens (human)
DOID:0070262
  • congenital disorder of glycosylation type IIj
  • Aliases:
    • CDG IIj
    • CDG syndrome type IIj
    • CDG2J
    • CDGIIdj
    • COG4-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIj
    • Congenital disorder of glycosylation type 2j
Saccharomyces cerevisiae S288C
DOID:0111673
  • Saul-Wilson syndrome
  • Aliases:
    • SWILS
    • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Saccharomyces cerevisiae S288C

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Last updated: August 19, 2024