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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 2776 - 2800 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0112051
  • non-syndromic X-linked intellectual disability 30
  • Aliases:
    • MRX30
    • MRX47
    • X-linked mental retardation 30
    • X-linked mental retardation 30/47
    • X-linked mental retardation 47
Homo sapiens (human)
DOID:0112056
  • X-linked intellectual disability-short stature-overweight syndrome
  • Aliases:
    • MRX12
    • MRX35
    • X-linked mental retardation 12
    • X-linked mental retardation 35
Homo sapiens (human)
DOID:0112061
  • immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
  • Aliases:
    • IMD73B
Homo sapiens (human)
DOID:0112062
  • immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
  • Aliases:
    • IMD73C
Homo sapiens (human)
DOID:0112063
  • X-Linked immunodeficiency 74
  • Aliases:
    • IMD74
    • TLR7 deficiency
    • X-linked immunodeficiency 74,COVID-19-related
    • respiratory insufficiency due to SARS-CoV-2 viral infection
Homo sapiens (human)
DOID:0112064
  • immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
  • Aliases:
    • IMD73A
    • neutrophil immunodeficiency syndrome
Homo sapiens (human)
DOID:0112068
  • nuclear type mitochondrial complex I deficiency 5
  • Aliases:
    • MC1DN5
Homo sapiens (human)
DOID:0112072
  • nuclear type mitochondrial complex I deficiency 20
  • Aliases:
    • ACAD9 deficiency
    • Acyl-CoA dehydrogenase 9 deficiency
    • MC1DN20
    • mitochondrial complex 1 deficiency due to ACAD9 deficiency
Homo sapiens (human)
DOID:0112075
  • nuclear type mitochondrial complex I deficiency 10
  • Aliases:
    • MC1DN10
Homo sapiens (human)
DOID:0112080
  • nuclear type mitochondrial complex I deficiency 32
  • Aliases:
    • MC1DN32
Homo sapiens (human)
DOID:0112081
  • nuclear type mitochondrial complex I deficiency 8
  • Aliases:
    • MC1DN8
Homo sapiens (human)
DOID:0112091
  • nuclear type mitochondrial complex I deficiency 34
  • Aliases:
    • MC1DN34
Homo sapiens (human)
DOID:0112098
  • nuclear type mitochondrial complex I deficiency 30
  • Aliases:
    • MC1DN30
Homo sapiens (human)
DOID:0112102
  • Sotos syndrome 2
  • Aliases:
    • SOTOS2
Homo sapiens (human)
DOID:0112103
  • Sotos syndrome 1
  • Aliases:
    • SOTOS1
Homo sapiens (human)
DOID:0112104
  • Sotos syndrome 3
  • Aliases:
    • SOTOS3
Homo sapiens (human)
DOID:0112105
  • X-linked parkinsonism-spasticity syndrome
  • Aliases:
    • X-linked Parkinsonism with spasticity
    • XPDS
Homo sapiens (human)
DOID:0112106
  • chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
  • Aliases:
    • X-linked dominant chondrodysplasia, Chassaing-Lacombe type
    • X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Homo sapiens (human)
DOID:0112108
  • myofibrillar myopathy 10
  • Aliases:
    • MFM10
Homo sapiens (human)
DOID:0112115
  • combined oxidative phosphorylation deficiency 46
  • Aliases:
    • COXPD46
Homo sapiens (human)
DOID:0112121
  • nephrogenic syndrome of inappropriate antidiuresis
  • Aliases:
    • NSIAD
Homo sapiens (human)
DOID:0112122
  • X-linked epilepsy with variable learning disabilities and behavior disorders
  • Aliases:
    • X-linked epilepsy-learning disabilities-behavior disorders syndrome
Homo sapiens (human)
DOID:0112125
  • alpha-thalassemia myelodysplasia syndrome
  • Aliases:
    • ATMDS
    • acquired HbH disease
    • acquired hemoglobin H disease
    • alpha-thalassemia-myelodysplastic syndrome
Homo sapiens (human)
DOID:0112127
  • HRPT-related hyperuricemia
  • Aliases:
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Kelley-Seegmiller syndrome
    • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • hypoxanthine guanine phosphoribosyltransferase partial deficiency
Homo sapiens (human)
DOID:0112129
  • severe congenital neutropenia 7
  • Aliases:
    • SCN7
    • autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Homo sapiens (human)
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Last updated: December 9, 2024