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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 3151 - 3175 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0081141
  • agammaglobulinemia 9
Homo sapiens (human)
DOID:0081140
  • agammaglobulinemia 8A
Homo sapiens (human)
DOID:0081138
  • agammaglobulinemia 6
Homo sapiens (human)
DOID:0081137
  • agammaglobulinemia 3
Homo sapiens (human)
DOID:0081135
  • agammaglobulinemia 2
Homo sapiens (human)
DOID:0081128
  • mandibuloacral dysplasia type A lipodystrophy
Homo sapiens (human)
DOID:0081126
  • DeSanto-Shinawi syndrome
  • Aliases:
    • Chromosome 10p12-p11 deletion syndrome
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
    • WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Homo sapiens (human)
DOID:0081125
  • craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
Homo sapiens (human)
DOID:0081124
  • craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
Homo sapiens (human)
DOID:0081123
  • X-linked mental retardation Gustavson type
  • Aliases:
    • mental retardation with optic atrophy, deafness and seizures
Homo sapiens (human)
DOID:0081122
  • Catel Manzke syndrome
  • Aliases:
    • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
    • Micrognathia digital syndrome
Homo sapiens (human)
DOID:0081120
  • Graves ophthalmopathy
  • Aliases:
    • Graves orbitopathy
    • Thyroid associated ophthalmopathy
    • thyroid eye disease
Homo sapiens (human)
DOID:0081119
  • benign familial infantile seizures 6
  • Aliases:
    • Autosomal dominant nocturnal frontal lobe epilepsy
    • Benign Familial Infantile Seizures, 6
    • nocturnal frontal lobe epilepsy-4
Homo sapiens (human)
DOID:0081118
  • benign familial infantile seizures 5
  • Aliases:
    • Benign Familial Infantile Seizures, 5
Homo sapiens (human)
DOID:0081116
  • benign familial infantile seizures 3
  • Aliases:
    • Benign Familial Infantile Seizures, 3
    • benign familial neonatal-infantile seizures
Homo sapiens (human)
DOID:0081113
  • Baraitser-Winter syndrome 2
Homo sapiens (human)
DOID:0081112
  • Baraitser-Winter syndrome 1
Homo sapiens (human)
DOID:0081111
  • osteosclerotic metaphyseal dysplasia
Homo sapiens (human)
DOID:0081110
  • keratosis palmoplantaris striata 3
Homo sapiens (human)
DOID:0081109
  • keratosis palmoplantaris striata 2
Homo sapiens (human)
DOID:0081108
  • keratosis palmoplantaris striata 1
Homo sapiens (human)
DOID:0081102
  • familial gestational hyperthyroidism
Homo sapiens (human)
DOID:0081101
  • nonautoimmune hyperthyroidism
  • Aliases:
    • Congenital nonautoimmune hyperthyroidism
Homo sapiens (human)
DOID:0081082
  • acute myelomonocytic leukemia
Homo sapiens (human)
DOID:0081075
  • Marsili syndrome
  • Aliases:
    • congenital analgesia
    • congenital insensitivity to pain
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