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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 1451 - 1475 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0080987
  • Ehlers-Danlos syndrome periodontal type 2
Homo sapiens (human)
DOID:0080988
  • pretibial dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0080990
  • King Denborough syndrome
Homo sapiens (human)
DOID:0080991
  • congenital myopathy 1B
  • Aliases:
    • multiminicore disease
Homo sapiens (human)
DOID:0080998
  • acute necrotizing pancreatitis
Homo sapiens (human)
DOID:0081001
  • Cowden syndrome 5
Homo sapiens (human)
DOID:0081002
  • Cowden syndrome 6
Homo sapiens (human)
DOID:0081003
  • Cowden syndrome 7
Homo sapiens (human)
DOID:0081007
  • RNASET2-deficient cystic leukoencephalopathy
  • Aliases:
    • cystic leukoencephalopathy without megalencephaly
    • infantile-onset RNASET2 deficient cystic leukoencephalopathy
Homo sapiens (human)
DOID:0081011
  • Bardet-Biedl syndrome 22
Homo sapiens (human)
DOID:0081015
  • congenital fibrosis of the extraocular muscles 1
Homo sapiens (human)
DOID:0081017
  • congenital fibrosis of the extraocular muscles 3A
Homo sapiens (human)
DOID:0081020
  • congenital fibrosis of the extraocular muscles 5
Homo sapiens (human)
DOID:0081022
  • retinal cone dystrophy 3B
  • Aliases:
    • cone dystrophy with supernormal rod responses
Homo sapiens (human)
DOID:0081023
  • retinal cone dystrophy 4
Homo sapiens (human)
DOID:0081030
  • central conducting lymphatic anomaly
  • Aliases:
    • lymphatic malformation-7
Homo sapiens (human)
DOID:0081042
  • T-cell prolymphocytic leukemia
  • Aliases:
    • Prolymphocytic leukemia, T-cell type
    • T Cell Prolymphocytic Leukemia
Homo sapiens (human)
DOID:0081046
  • frontonasal dysplasia 2
Homo sapiens (human)
DOID:0081048
  • congenital limbs-face contractures-hypotonia-developmental delay syndrome
  • Aliases:
    • CLIFAHDD syndrome
    • congenital contractures of the limbs and face, hypotonia, and developmental delay
Homo sapiens (human)
DOID:0081060
  • X-linked nephrogenic diabetes insipidus
  • Aliases:
    • nephrogenic diabetes insipidus type 1
Homo sapiens (human)
DOID:0081061
  • nephrogenic diabetes insipidus type 2
  • Aliases:
    • autosomal nephrogenic diabetes insipidus-2
Homo sapiens (human)
DOID:0081063
  • DICER1 syndrome
  • Aliases:
    • PPB familial tumor susceptibility syndrome
    • Pleuro-pulmonary blastoma familial tumor susceptibility
    • Pleuro-pulmonary blastoma familial tumor susceptibility syndrome
    • Pleuropulmonary blastoma familial tumor susceptibility syndrome
Homo sapiens (human)
DOID:0081072
  • craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
  • Aliases:
    • Cerebro-facio-thoracic dysplasia
    • Cerebrofaciothoracic dysplasia
    • Pascual-Castroviejo syndrome
    • TMCO1 defect syndrome
Homo sapiens (human)
DOID:0081074
  • Teebi hypertelorism syndrome 2
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