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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 3751 - 3775 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0080349
  • developmental and epileptic encephalopathy 39
  • Aliases:
    • AGC1 deficiency
    • early infantile epileptic encephalopathy 39
    • epileptic encephalopathy with global cerebral demyelination
Homo sapiens (human)
DOID:0080349
  • developmental and epileptic encephalopathy 39
  • Aliases:
    • AGC1 deficiency
    • early infantile epileptic encephalopathy 39
    • epileptic encephalopathy with global cerebral demyelination
Drosophila melanogaster (fruit fly)
DOID:0080350
  • retinitis pigmentosa 77
Mus musculus (house mouse)
DOID:0080351
  • CLOVES syndrome
  • Aliases:
    • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Rattus norvegicus (Norway rat)
DOID:0080351
  • CLOVES syndrome
  • Aliases:
    • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Homo sapiens (human)
DOID:0080351
  • CLOVES syndrome
  • Aliases:
    • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Mus musculus (house mouse)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Mus musculus (house mouse)
DOID:0080353
  • X-linked recessive hypophosphatemic rickets
Mus musculus (house mouse)
DOID:0080353
  • X-linked recessive hypophosphatemic rickets
Homo sapiens (human)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Homo sapiens (human)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Mus musculus (house mouse)
DOID:0080356
  • IgG4-related disease
Homo sapiens (human)
DOID:0080365
  • endometrial hyperplasia
Rattus norvegicus (Norway rat)
DOID:0080365
  • endometrial hyperplasia
Mus musculus (house mouse)
DOID:0080365
  • endometrial hyperplasia
Homo sapiens (human)
DOID:0080376
  • trichorhinophalangeal syndrome type III
  • Aliases:
    • trichorhinophalangeal syndrome type 3
Homo sapiens (human)
DOID:0080377
  • peroxisomal biogenesis disorder
Danio rerio (zebrafish)
DOID:0080377
  • peroxisomal biogenesis disorder
Saccharomyces cerevisiae S288C
DOID:0080377
  • peroxisomal biogenesis disorder
Mus musculus (house mouse)
DOID:0080377
  • peroxisomal biogenesis disorder
Homo sapiens (human)
DOID:0080379
  • nephrotic syndrome type 2
  • Aliases:
    • steroid-resistant autosomal recessive nephrotic syndrome
Mus musculus (house mouse)
DOID:0080379
  • nephrotic syndrome type 2
  • Aliases:
    • steroid-resistant autosomal recessive nephrotic syndrome
Homo sapiens (human)
DOID:0080380
  • nephrotic syndrome type 5
  • Aliases:
    • nephrotic syndrome type 5, with or without ocular abnormalities
Homo sapiens (human)
DOID:0080380
  • nephrotic syndrome type 5
  • Aliases:
    • nephrotic syndrome type 5, with or without ocular abnormalities
Rattus norvegicus (Norway rat)
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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