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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2226 - 2250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111629
  • dihydropyrimidinase deficiency
  • Aliases:
    • DPH deficiency
    • DPYS deficiency
    • DPYSD
    • dihydropyrimidinuria
Mus musculus (house mouse)
DOID:0110527
  • autosomal recessive nonsyndromic deafness 8
  • Aliases:
    • DFNB10
    • DFNB8
    • NRSD8
    • autosomal recessive deafness 10
    • autosomal recessive deafness 8
    • childhood-onset neurosensory autosomal recessive deafness 8
    • neurosensory nonsyndromic recessive deafness 8
Homo sapiens (human)
DOID:0060835
  • isolated microphthalmia 6
  • Aliases:
    • MCOP6
    • posterior nonsyndromic microphthalmia
Homo sapiens (human)
DOID:0111380
  • solitary median maxillary central incisor
  • Aliases:
    • SMMCI
    • fused incisors
    • single central maxillary incisor
    • single median maxillary central incisor
    • single upper central incisor
Homo sapiens (human)
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Homo sapiens (human)
DOID:0110875
  • holoprosencephaly 3
  • Aliases:
    • HLP3
    • HPE3
Homo sapiens (human)
DOID:0111818
  • syndactyly type 4
  • Aliases:
    • Haas type syndactyly
    • SDTY4
    • polysyndactyly, Haas type
Homo sapiens (human)
DOID:2732
  • Rothmund-Thomson syndrome
  • Aliases:
    • Congenital poikiloderma
    • RTS
Homo sapiens (human)
DOID:0111948
  • immunodeficiency 46
  • Aliases:
    • CID due to TFRC deficiency
    • IMD46
    • TFRC-related combined immunodeficiency
    • combined immunodeficiency due to TFRC deficiency
Rattus norvegicus (Norway rat)
DOID:374
  • nutrition disease
  • Aliases:
    • Nutritional disorder
Rattus norvegicus (Norway rat)
DOID:0110439
  • dilated cardiomyopathy 1P
  • Aliases:
    • CMD1P
Rattus norvegicus (Norway rat)
DOID:0110324
  • hypertrophic cardiomyopathy 18
  • Aliases:
    • CMH18
    • cardiomyopathy familial hypertrophic 18
Rattus norvegicus (Norway rat)
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Rattus norvegicus (Norway rat)
DOID:0050948
  • autosomal dominant hypophosphatemic rickets
Mus musculus (house mouse)
DOID:3669
  • intermittent claudication
  • Aliases:
    • Charcot's syndrome
Rattus norvegicus (Norway rat)
DOID:0060937
  • dystonia 30
  • Aliases:
    • DYT30
Homo sapiens (human)
DOID:0060844
  • Norrie disease
  • Aliases:
    • Episkopi blindness
    • Norrie-Warburg disease
    • atrophia bulborum hereditaria
Rattus norvegicus (Norway rat)
DOID:0111412
  • exudative vitreoretinopathy 1
  • Aliases:
    • EVR1
Rattus norvegicus (Norway rat)
DOID:0050535
  • exudative vitreoretinopathy
  • Aliases:
    • FEVR
    • familial exudative vitreoretinopathy
Rattus norvegicus (Norway rat)
DOID:0081144
  • common variable immunodeficiency 1
Rattus norvegicus (Norway rat)
DOID:0060025
  • immunoglobulin alpha deficiency
  • Aliases:
    • IgA deficiency
    • gamma-A-globulin deficiency
Rattus norvegicus (Norway rat)
DOID:9432
  • renal glycosuria
  • Aliases:
    • renal diabetes
Rattus norvegicus (Norway rat)
DOID:1856
  • cherubism
Homo sapiens (human)
DOID:0080845
  • omodysplasia 2
Rattus norvegicus (Norway rat)
DOID:971
  • tendinitis
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024