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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4276 - 4300 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110210
  • Charcot-Marie-Tooth disease X-linked recessive 5
  • Aliases:
    • CMT5X
    • CMTX5
    • Charcot-Marie-Tooth neuropathy X-linked recessive 5
    • Rosenberg-Chutorian syndrome
    • X-linked Charcot-Marie-Tooth disease type 5
    • optic atrophy, polyneuropathy, and deafness
Homo sapiens (human)
DOID:0050888
  • syndromic intellectual disability
Mus musculus (house mouse)
DOID:0110415
  • retinitis pigmentosa 2
  • Aliases:
    • RP2
Mus musculus (house mouse)
DOID:445
  • Bartter disease
  • Aliases:
    • Aldosteronism with hyperplasia of the adrenal cortex
    • Bartter's syndrome
Mus musculus (house mouse)
DOID:0110144
  • Bartter disease type 3
  • Aliases:
    • BARTS3
    • Bartter syndrome type 3
    • classic Bartter syndrome
Mus musculus (house mouse)
DOID:0110143
  • Bartter disease type 2
  • Aliases:
    • BARTS2
    • Bartter syndrome type 2
    • Bartter syndrome type 2 antenatal
    • hyperprostaglandin E syndrome 2
    • hypokalemic alkalosis with hypercalciuria 2 antenatal
Mus musculus (house mouse)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Mus musculus (house mouse)
DOID:0050629
  • Aicardi-Goutieres syndrome
  • Aliases:
    • AGS
    • Cree encephalitis
Mus musculus (house mouse)
DOID:4989
  • pancreatitis
Homo sapiens (human)
DOID:0080237
  • autosomal dominant intellectual developmental disorder 46
  • Aliases:
    • autosomal dominant mental retardation 46
Homo sapiens (human)
DOID:0060575
  • 3MC syndrome 1
Homo sapiens (human)
DOID:0060751
  • familial temporal lobe epilepsy 7
  • Aliases:
    • ETL7
Homo sapiens (human)
DOID:0060902
  • Norman-Roberts syndrome
  • Aliases:
    • lissencephaly 2
    • lissencephaly syndrome, Norman-Roberts type
Homo sapiens (human)
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Homo sapiens (human)
DOID:0111403
  • mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
  • Aliases:
    • MCCCHCM
Mus musculus (house mouse)
DOID:4752
  • multiple system atrophy
  • Aliases:
    • Shy-Drager syndrome
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Homo sapiens (human)
DOID:0110961
  • atypical Gaucher's disease due to saposin c deficiency
Homo sapiens (human)
DOID:0110980
  • Joubert syndrome 1
  • Aliases:
    • CORS1
    • CPD4
    • JBTS1
    • cerebellooculorenal syndrome 1
    • cerebelloparenchymal disorder IV
Homo sapiens (human)
DOID:0110337
  • osteogenesis imperfecta type 7
  • Aliases:
    • OI7
    • osteogenesis imperfecta type VII
Mus musculus (house mouse)
DOID:0111981
  • immunodeficiency 43
  • Aliases:
    • B2M deficiency
    • IMD43
    • beta-2-microglobulin deficiency
    • hypercatabolic hypoproteinemia
Homo sapiens (human)
DOID:0110167
  • Charcot-Marie-Tooth disease axonal type 2K
  • Aliases:
    • ARCMT2K
    • Charcot-Marie-Tooth neuropathy axonal type 2K
    • autosomal recessive Charcot-Marie-Tooth disease with hoarseness
    • autosomal recessive axonal CMT4C4
    • autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Homo sapiens (human)
DOID:12678
  • hypercalcemia
Rattus norvegicus (Norway rat)
DOID:0060748
  • familial temporal lobe epilepsy 1
  • Aliases:
    • ETL1
    • partial epilepsy with auditory features
Mus musculus (house mouse)
DOID:0060916
  • proteasome-associated autoinflammatory syndrome 3
  • Aliases:
    • PRAAS3
Homo sapiens (human)
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Last updated: March 31, 2025