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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 8376 - 8400 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0112186
  • thyroid dyshormonogenesis 2A
  • Aliases:
    • TDH2A
    • genetic defect in thyroid hormonogenesis 2A
    • iodide peroxidase deficiency
    • thyroid peroxidase deficiency
Mus musculus (house mouse)
DOID:0112187
  • thyroid dyshormonogenesis 3
  • Aliases:
    • TDH3
    • genetic defect in thyroid hormonogenesis 3
Homo sapiens (human)
DOID:0112187
  • thyroid dyshormonogenesis 3
  • Aliases:
    • TDH3
    • genetic defect in thyroid hormonogenesis 3
Mus musculus (house mouse)
DOID:0112189
  • thyroid dyshormonogenesis 6
  • Aliases:
    • TDH6
    • genetic defect in thyroid hormonogenesis 6
Homo sapiens (human)
DOID:0112189
  • thyroid dyshormonogenesis 6
  • Aliases:
    • TDH6
    • genetic defect in thyroid hormonogenesis 6
Drosophila melanogaster (fruit fly)
DOID:0112189
  • thyroid dyshormonogenesis 6
  • Aliases:
    • TDH6
    • genetic defect in thyroid hormonogenesis 6
Rattus norvegicus (Norway rat)
DOID:0112189
  • thyroid dyshormonogenesis 6
  • Aliases:
    • TDH6
    • genetic defect in thyroid hormonogenesis 6
Caenorhabditis elegans
DOID:0112192
  • tetraamelia syndrome 1
  • Aliases:
    • TETAMS1
    • tetra-amelia syndrome 1
Mus musculus (house mouse)
DOID:0112192
  • tetraamelia syndrome 1
  • Aliases:
    • TETAMS1
    • tetra-amelia syndrome 1
Homo sapiens (human)
DOID:0112193
  • tetraamelia syndrome 2
  • Aliases:
    • TETAMS2
    • tetra-amelia with pulmonary hypoplasia
    • tetraamelia with pulmonary hypoplasia
Xenopus laevis (African clawed frog)
DOID:0112193
  • tetraamelia syndrome 2
  • Aliases:
    • TETAMS2
    • tetra-amelia with pulmonary hypoplasia
    • tetraamelia with pulmonary hypoplasia
Mus musculus (house mouse)
DOID:0112193
  • tetraamelia syndrome 2
  • Aliases:
    • TETAMS2
    • tetra-amelia with pulmonary hypoplasia
    • tetraamelia with pulmonary hypoplasia
Xenopus tropicalis (tropical clawed frog)
DOID:0112193
  • tetraamelia syndrome 2
  • Aliases:
    • TETAMS2
    • tetra-amelia with pulmonary hypoplasia
    • tetraamelia with pulmonary hypoplasia
Homo sapiens (human)
DOID:0112194
  • Filippi syndrome
  • Aliases:
    • Scott craniodigital syndrome with mental retardation
    • type 1 syndactyly-microcephaly-intellectual disability syndrome
Mus musculus (house mouse)
DOID:0112194
  • Filippi syndrome
  • Aliases:
    • Scott craniodigital syndrome with mental retardation
    • type 1 syndactyly-microcephaly-intellectual disability syndrome
Homo sapiens (human)
DOID:0112195
  • spondyloperipheral dysplasia
  • Aliases:
    • spondyloperipheral dysplasia-short ulna syndrome
Homo sapiens (human)
DOID:0112195
  • spondyloperipheral dysplasia
  • Aliases:
    • spondyloperipheral dysplasia-short ulna syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0112195
  • spondyloperipheral dysplasia
  • Aliases:
    • spondyloperipheral dysplasia-short ulna syndrome
Rattus norvegicus (Norway rat)
DOID:0112195
  • spondyloperipheral dysplasia
  • Aliases:
    • spondyloperipheral dysplasia-short ulna syndrome
Xenopus laevis (African clawed frog)
DOID:0112195
  • spondyloperipheral dysplasia
  • Aliases:
    • spondyloperipheral dysplasia-short ulna syndrome
Mus musculus (house mouse)
DOID:0112196
  • spondylometaepiphyseal dysplasia, short limb-hand type
  • Aliases:
    • SMED short limb-abnormal calcification type
    • SMED short limb-hand type
    • SMED type 2
    • SMED, type II
    • SMED-SL
    • SMED-SL/AC
    • spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
    • spondylometaepiphyseal dysplasia short limb-hand type
Mus musculus (house mouse)
DOID:0112196
  • spondylometaepiphyseal dysplasia, short limb-hand type
  • Aliases:
    • SMED short limb-abnormal calcification type
    • SMED short limb-hand type
    • SMED type 2
    • SMED, type II
    • SMED-SL
    • SMED-SL/AC
    • spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
    • spondylometaepiphyseal dysplasia short limb-hand type
Caenorhabditis elegans
DOID:0112196
  • spondylometaepiphyseal dysplasia, short limb-hand type
  • Aliases:
    • SMED short limb-abnormal calcification type
    • SMED short limb-hand type
    • SMED type 2
    • SMED, type II
    • SMED-SL
    • SMED-SL/AC
    • spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
    • spondylometaepiphyseal dysplasia short limb-hand type
Homo sapiens (human)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Drosophila melanogaster (fruit fly)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Mus musculus (house mouse)
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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