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 4176 - 4200 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0060825
  • Christianson syndrome
  • Aliases:
    • MRXSCH
    • X-linked Angelman-like syndrome
    • X-linked intellectual disability, South African type
    • X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
    • mental retardation, X-linked syndromic, Christianson type
    • mental retardation, microcephaly, epilepsy, and ataxia syndrome
Mus musculus (house mouse)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Mus musculus (house mouse)
DOID:3652
  • Leigh disease
  • Aliases:
    • Infantile necrotizing encephalomyelopathy
    • Leigh syndrome
    • juvenile subacute necrotizing encephalomyelopathy
Mus musculus (house mouse)
DOID:7736
  • retinal telangiectasia
Mus musculus (house mouse)
DOID:0060581
  • Noonan syndrome 3
  • Aliases:
    • NS3
Mus musculus (house mouse)
DOID:0060038
  • specific developmental disorder
Mus musculus (house mouse)
DOID:0070287
  • primary autosomal recessive microcephaly 11
  • Aliases:
    • MCPH11
Mus musculus (house mouse)
DOID:150
  • disease of mental health
Mus musculus (house mouse)
DOID:0112192
  • tetraamelia syndrome 1
  • Aliases:
    • TETAMS1
    • tetra-amelia syndrome 1
Mus musculus (house mouse)
DOID:0080077
  • hypophosphatemic nephrolithiasis/osteoporosis 1
Mus musculus (house mouse)
DOID:5426
  • primary ovarian insufficiency
  • Aliases:
    • hypergonadotropic hypogonadism
    • premature ovarian failure
    • premature ovarian insufficiency
Mus musculus (house mouse)
DOID:0070209
  • hereditary lymphedema ID
  • Aliases:
    • LMPH1D
Mus musculus (house mouse)
DOID:3179
  • inverted papilloma
  • Aliases:
    • Inverted papilloma, squamous cell
Mus musculus (house mouse)
DOID:0060496
  • respiratory allergy
  • Aliases:
    • airway allergy
Mus musculus (house mouse)
DOID:1485
  • cystic fibrosis
  • Aliases:
    • CF
    • mucoviscidosis
Mus musculus (house mouse)
DOID:14720
  • Ehlers-Danlos syndrome classic type 1
  • Aliases:
    • Ehlers-Danlos syndrome, type 1
    • type I Ehlers-Danlos syndrome
Mus musculus (house mouse)
DOID:1588
  • thrombocytopenia
Mus musculus (house mouse)
DOID:4617
  • periapical granuloma
  • Aliases:
    • Apical granuloma
Mus musculus (house mouse)
DOID:0060025
  • immunoglobulin alpha deficiency
  • Aliases:
    • IgA deficiency
    • gamma-A-globulin deficiency
Mus musculus (house mouse)
DOID:0081401
  • autosomal dominant distal hereditary motor neuronopathy 13
Mus musculus (house mouse)
DOID:12960
  • acrocephalosyndactylia
  • Aliases:
    • Apert syndrome
Mus musculus (house mouse)
DOID:0070168
  • spermatogenic failure 3
  • Aliases:
    • SPGF3
Mus musculus (house mouse)
DOID:0081320
  • multiple synostoses syndrome 4
Mus musculus (house mouse)
DOID:5603
  • T-cell acute lymphoblastic leukemia
  • Aliases:
    • Precursor T Lymphoblastic Leukemia
    • T Acute Lymphoblastic Leukemia
    • T-cell acute lymphocytic leukaemia
    • T-cell leukemia
    • T-cell lymphoblastic leukemia/lymphoma
    • acute T cell leukemia
    • precursor T-lymphoblastic lymphoma/leukemia
Mus musculus (house mouse)
DOID:0111386
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
  • Aliases:
    • IBMPFD3
    • MSP3
    • multisystem proteinopathy 3
Mus musculus (house mouse)

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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