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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 4226 - 4250 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0110152
  • Charcot-Marie-Tooth disease type 1B
  • Aliases:
    • CMT1B
    • Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
    • Charcot-Marie-Tooth neuropathy type 1B
    • HMSN IB
    • HMSN1B
    • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
    • hereditary motor and sensory neuropathy IB
    • peroneal muscular atrophy
Mus musculus (house mouse)
DOID:0050540
  • Charcot-Marie-Tooth disease type 3
  • Aliases:
    • DEJERINE-SOTTAS NEUROPATHY
    • DEJERINE-SOTTAS SYNDROME
Mus musculus (house mouse)
DOID:12798
  • mucopolysaccharidosis
Caenorhabditis elegans
DOID:0050461
  • aspartylglucosaminuria
  • Aliases:
    • aspartylglucosaminidase deficiency
    • aspartylglycosaminuria
    • glycosylasparaginase deficiency
Homo sapiens (human)
DOID:3211
  • lysosomal storage disease
  • Aliases:
    • disorder of lysosomal enzyme
    • inborn lysosomal enzyme disorder
    • lysosomal storage metabolism disorder
Homo sapiens (human)
DOID:0090118
  • congenital amegakaryocytic thrombocytopenia
  • Aliases:
    • CAMT
    • congenital amegakaryocytic thrombocytopenic purpura
Mus musculus (house mouse)
DOID:417
  • autoimmune disease
  • Aliases:
    • autoimmune hypersensitivity disease
    • hypersensitivity reaction type II disease
Mus musculus (house mouse)
DOID:2962
  • Cockayne syndrome
  • Aliases:
    • Neill-Dingwall syndrome
Caenorhabditis elegans
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Caenorhabditis elegans
DOID:1064
  • cystinosis
  • Aliases:
    • cystine storage disease
Caenorhabditis elegans
DOID:0050773
  • paraganglioma
  • Aliases:
    • chemodectoma
    • glomus body tumor
Homo sapiens (human)
DOID:0060469
  • Miller-Dieker lissencephaly syndrome
  • Aliases:
    • MDS
    • Miller-Dieker syndrome
Mus musculus (house mouse)
DOID:14330
  • Parkinson's disease
  • Aliases:
    • Parkinson disease
    • paralysis agitans
Caenorhabditis elegans
DOID:0060363
  • glycerol kinase deficiency
Caenorhabditis elegans
DOID:3649
  • pyruvate decarboxylase deficiency
  • Aliases:
    • deficiency of pyruvic dehydrogenase
    • pyruvate dehydrogenase complex deficiency disease
    • pyruvate dehydrogenase deficiency
Homo sapiens (human)
DOID:0110867
  • congenital stationary night blindness 1C
  • Aliases:
    • CSNB1C
    • congenital stationary night blindness 1C autosomal recessive
Mus musculus (house mouse)
DOID:2729
  • dyskeratosis congenita
  • Aliases:
    • DKCD
Homo sapiens (human)
DOID:0070025
  • X-linked dyskeratosis congenita
  • Aliases:
    • DKCX
    • Zinsser-Cole-Engman syndrome
Homo sapiens (human)
DOID:12449
  • aplastic anemia
Homo sapiens (human)
DOID:3883
  • Lynch syndrome
  • Aliases:
    • HNPCC
    • Hereditary Defective Mismatch Repair syndrome
    • Hereditary non-polyposis colon cancer
    • Hereditary non-polyposis colon cancer syndrome
    • Hereditary non-polyposis colorectal cancer
    • Hereditary non-polyposis colorectal cancer syndrome
    • Hereditary nonpolyposis colon cancer
    • Hereditary nonpolyposis colon cancer syndrome
    • Hereditary nonpolyposis colorectal cancer syndrome
    • hereditary nonpolyposis colorectal cancer
    • hereditary nonpolyposis colorectal neoplasm
Mus musculus (house mouse)
DOID:0090100
  • ocular albinism with sensorineural deafness
  • Aliases:
    • WS2-OA
    • autosomal recessive Waardenburg syndrome type 2 with ocular albinism
    • digenic Waardenburg syndrome/albinism
    • digenic Waardenburg syndrome/ocular albinism
Mus musculus (house mouse)
DOID:4997
  • Camurati-Engelmann disease
  • Aliases:
    • Diaphyseal dysplasia
    • Engelman's disease
    • progressive diaphyseal dysplasia
Mus musculus (house mouse)
DOID:0090002
  • Tietz syndrome
  • Aliases:
    • Tietz albinism-deafness syndrome
    • albinism-deafness of Tietz
    • hypopigmentation/deafness of Tietz
Mus musculus (house mouse)
DOID:0110950
  • Waardenburg syndrome type 2A
  • Aliases:
    • WS2A
    • Waardenburg syndrome type IIA
Mus musculus (house mouse)
DOID:0110948
  • Waardenburg syndrome type 1
  • Aliases:
    • WS1
    • Waardenburg syndrome type I
Mus musculus (house mouse)
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Last updated: April 7, 2025