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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 15826 - 15850 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0070516
  • Mitchell syndrome
Mus musculus (house mouse)
DOID:0050934
  • ovarian clear cell carcinoma
  • Aliases:
    • clear-cell ovarian carcinoma
Mus musculus (house mouse)
DOID:0070044
  • Coffin-Siris syndrome 2
  • Aliases:
    • CSS2
    • MRD14
    • autosomal dominant mental retardation 14
Mus musculus (house mouse)
DOID:0070042
  • Coffin-Siris syndrome 1
  • Aliases:
    • CSS1
    • MRD12
    • autosomal dominant mental retardation 12
    • fifth digit syndrome
Mus musculus (house mouse)
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Homo sapiens (human)
DOID:0111671
  • primary hyperoxaluria type 2
  • Aliases:
    • D-glycerate dehydrogenase deficiency
    • HP2
    • L-glyceric aciduria
    • glyoxylate reductase/hydroxypyruvate reductase deficiency
    • oxalosis II
Homo sapiens (human)
DOID:0070259
  • congenital disorder of glycosylation type IIg
  • Aliases:
    • CDG IIg
    • CDG2G
    • CDGII/COG1 cerebrocostomandibular-like syndrome
    • CDGIIg
    • Carbohydrate deficient glycoprotein syndrome type IIg
Homo sapiens (human)
DOID:0060708
  • lymphoproliferative syndrome 2
  • Aliases:
    • CD27 deficiency
    • LPFS2
Homo sapiens (human)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Homo sapiens (human)
DOID:0111275
  • speech-language disorder-1
  • Aliases:
    • CAS
    • articulatory apraxia
    • childhood apraxia of speech
    • developmental apraxia of speech
    • developmental verbal dyspraxia
    • speech and language disorder with orofacial dyspraxia
    • speech-language disorder type 1
Homo sapiens (human)
DOID:93
  • language disorder
Homo sapiens (human)
DOID:0070382
  • developmental and epileptic encephalopathy 95
  • Aliases:
    • DEE95
    • early infantile epileptic encephalopathy 95
Homo sapiens (human)
DOID:0050774
  • rapadilino syndrome
Homo sapiens (human)
DOID:0050654
  • Baller-Gerold syndrome
Homo sapiens (human)
DOID:0112145
  • retinitis pigmentosa 88
  • Aliases:
    • RP88
Homo sapiens (human)
DOID:0050578
  • occult macular dystrophy
Homo sapiens (human)
DOID:0070224
  • progressive familial intrahepatic cholestasis 4
  • Aliases:
    • PFIC4
    • TJP2 deficit
Homo sapiens (human)
DOID:5804
  • discrete subaortic stenosis
Homo sapiens (human)
DOID:0110409
  • retinitis pigmentosa 46
  • Aliases:
    • RP46
Rattus norvegicus (Norway rat)
DOID:0111903
  • thrombophilia due to HRG deficiency
  • Aliases:
    • THPH11
    • hereditary thrombophilia due to congenital HRG deficiency
    • hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Mus musculus (house mouse)
DOID:0111951
  • immunodeficiency 40
  • Aliases:
    • DOCK2 deficiency
    • IMD40
Mus musculus (house mouse)
DOID:0060450
  • Lisch epithelial corneal dystrophy
  • Aliases:
    • LECD
    • band-shaped and whorled microcystic
Mus musculus (house mouse)
DOID:0080576
  • spondyloepimetaphyseal dysplasia, Genevieve-type
Mus musculus (house mouse)
DOID:0060050
  • autoimmune disease of blood
Mus musculus (house mouse)
DOID:10907
  • microcephaly
  • Aliases:
    • Microcephalus
    • microencephaly
Rattus norvegicus (Norway rat)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024