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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 8501 - 8525 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:2583
  • agammaglobulinemia
  • Aliases:
    • IGHM
    • hypogammaglobulinemia
    • mu heavy chain deficiency
Homo sapiens (human)
DOID:0081022
  • retinal cone dystrophy 3B
  • Aliases:
    • cone dystrophy with supernormal rod responses
Homo sapiens (human)
DOID:10930
  • borderline personality disorder
Homo sapiens (human)
DOID:326
  • ischemia
Homo sapiens (human)
DOID:0080512
  • Meier-Gorlin syndrome 1
Homo sapiens (human)
DOID:5162
  • arteriolosclerosis
Homo sapiens (human)
DOID:0050788
  • proximal symphalangism
  • Aliases:
    • Cushing's symphalangism
Homo sapiens (human)
DOID:14213
  • hypophosphatasia
  • Aliases:
    • deficiency of alkaline phosphatase
Homo sapiens (human)
DOID:0111638
  • autosomal recessive nonsyndromic deafness 100
  • Aliases:
    • DFNB100
    • autosomal recessive deafness 100
Homo sapiens (human)
DOID:0060081
  • triple-receptor negative breast cancer
Homo sapiens (human)
DOID:0080431
  • developmental and epileptic encephalopathy 19
  • Aliases:
    • DEE19
    • early infantile epileptic encephalopathy 19
Homo sapiens (human)
DOID:0050646
  • distal arthrogryposis
  • Aliases:
    • Arthrogryposis Multiplex Congenita
Homo sapiens (human)
DOID:10603
  • glucose intolerance
  • Aliases:
    • Glucose malabsorption
    • Malabsorption of glucose
Homo sapiens (human)
DOID:1564
  • fungal infectious disease
  • Aliases:
    • mycosis
Homo sapiens (human)
DOID:0080413
  • developmental and epileptic encephalopathy 18
  • Aliases:
    • DEE18
    • early infantile epileptic encephalopathy 18
Homo sapiens (human)
DOID:0111302
  • generalized epilepsy with febrile seizures plus 1
  • Aliases:
    • GEFS+1
    • GEFSP1
    • generalised epilepsy with febrile seizures plus 1
    • generalised epilepsy with febrile seizures plus type 1
    • generalized epilepsy with febrile seizures plus type 1
Homo sapiens (human)
DOID:2907
  • Goldenhar syndrome
  • Aliases:
    • Facio-auriculo-vertebral spectrum
    • First AND second branchial arch syndrome
    • First arch syndrome
    • HEMIFACIAL MICROSOMIA
    • OAV (oculoauriculovertebral) dysplasia
    • Otomandibular dysostosis
Homo sapiens (human)
DOID:0111370
  • apolipoprotein C-III deficiency
  • Aliases:
    • HALP2
    • hyperalphalipoproteinemia 2
Homo sapiens (human)
DOID:0112232
  • lissencephaly 3
  • Aliases:
    • LIS3
Homo sapiens (human)
DOID:0111340
  • dominant optic atrophy plus syndrome
  • Aliases:
    • DOA+
    • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Homo sapiens (human)
DOID:0111941
  • immunodeficiency 20
  • Aliases:
    • CD16 deficiency
    • IMD20
    • autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
    • autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Homo sapiens (human)
DOID:255
  • hemangioma
Homo sapiens (human)
DOID:9065
  • leishmaniasis
Homo sapiens (human)
DOID:0050817
  • Stargardt disease
  • Aliases:
    • STARGARDT DISEASE 1
Homo sapiens (human)
DOID:0110609
  • primary ciliary dyskinesia 23
  • Aliases:
    • CILD23
    • primary ciliary dyskinesia 23 with or without situs inversus
Homo sapiens (human)
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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