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 151 - 175 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0090056
  • dystonia 12
Homo sapiens (human)
DOID:0090048
  • dystonia 16
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0081219
  • autosomal recessive intellectual developmental disorder 57
Homo sapiens (human)
DOID:0080559
  • congenital disorder of glycosylation Ig
  • Aliases:
    • ALG12-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1g
Homo sapiens (human)
DOID:9839
  • accommodative esotropia
Homo sapiens (human)
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Homo sapiens (human)
DOID:2776
  • adamantinoma
  • Aliases:
    • adamantinoma of long bones
Homo sapiens (human)
DOID:0070395
  • developmental and epileptic encephalopathy 110
  • Aliases:
    • DEE110
    • early infantile epileptic encephalopathy 110
Homo sapiens (human)
DOID:0110404
  • retinitis pigmentosa 17
  • Aliases:
    • RP17
Homo sapiens (human)
DOID:0080941
  • acquired angioedema
Homo sapiens (human)
DOID:11702
  • dysgammaglobulinemia
Homo sapiens (human)
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Homo sapiens (human)
DOID:0060758
  • immunodeficiency with hyper-IgM type 2
  • Aliases:
    • AID deficiency
    • HIGM2
    • activation-induced cytidine deaminase deficiency
    • hyper-IgM syndrome type 2
Homo sapiens (human)
DOID:0050833
  • orotic aciduria
Homo sapiens (human)
DOID:1342
  • congenital hypoplastic anemia
  • Aliases:
    • congenital aplastic anaemia
    • congenital aplastic anemia
    • congenital hypoplastic anaemia
Homo sapiens (human)
DOID:1339
  • Diamond-Blackfan anemia
  • Aliases:
    • Blackfan - Diamond syndrome
    • chronic constitutional pure red cell anaemia
Homo sapiens (human)
DOID:0060062
  • familial juvenile hyperuricemic nephropathy
Homo sapiens (human)
DOID:9643
  • babesiosis
  • Aliases:
    • Babesiasis
    • Infection by babesia
    • piroplasmosis
Homo sapiens (human)
DOID:0090022
  • split hand-foot malformation 5
  • Aliases:
    • SHFM5
Homo sapiens (human)
DOID:0090020
  • split hand-foot malformation
  • Aliases:
    • lobster-claw deformity
    • split-hand deformity
Homo sapiens (human)
DOID:0090023
  • split hand-foot malformation 4
  • Aliases:
    • SHFM4
Homo sapiens (human)
DOID:0090026
  • split hand-foot malformation 6
  • Aliases:
    • SHFM6
Homo sapiens (human)
DOID:0090027
  • split hand-foot malformation 2
  • Aliases:
    • SHFM2
Homo sapiens (human)
DOID:0090025
  • split hand-foot malformation 3
  • Aliases:
    • SHFM3
    • chromosome 10q24 duplication syndrome
    • distal limb deficiencies with micrognathia
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024