GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3701 - 3725 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0080473
  • developmental delay and seizures with or without movement abnormalities
Homo sapiens (human)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Homo sapiens (human)
DOID:0080468
  • developmental and epileptic encephalopathy 1
  • Aliases:
    • DEE1
    • X-linked infantile spasm syndrome 1
    • early infantile epileptic encephalopathy 1
Homo sapiens (human)
DOID:0080467
  • developmental and epileptic encephalopathy 2
  • Aliases:
    • DEE2
    • EIEE2
    • X-linked infantile spasm syndrome 2
    • early infantile epileptic encephalopathy 2
Homo sapiens (human)
DOID:0080464
  • developmental and epileptic encephalopathy 53
  • Aliases:
    • DEE53
    • early infantile epileptic encephalopathy 53
Homo sapiens (human)
DOID:0080459
  • developmental and epileptic encephalopathy 12
  • Aliases:
    • DEE12
    • early infantile epileptic encephalopathy 12
Homo sapiens (human)
DOID:0080443
  • developmental and epileptic encephalopathy 21
  • Aliases:
    • DEE21
    • early infantile epileptic encephalopathy 21
Homo sapiens (human)
DOID:0080440
  • developmental and epileptic encephalopathy 3
  • Aliases:
    • early infantile epileptic encephalopathy 3
Homo sapiens (human)
DOID:0080433
  • developmental and epileptic encephalopathy 51
  • Aliases:
    • DEE51
    • early infantile epileptic encephalopathy 51
Homo sapiens (human)
DOID:0080422
  • Dravet syndrome
  • Aliases:
    • DEE6
    • DEE6A
    • developmental and epileptic encephalopathy 6
    • developmental and epileptic encephalopathy 6A
    • early infantile epileptic encephalopathy 6
    • severe myoclonic epilepsy of infancy
Homo sapiens (human)
DOID:0080414
  • developmental and epileptic encephalopathy 15
  • Aliases:
    • DEE15
    • early infantile epileptic encephalopathy 15
Homo sapiens (human)
DOID:0080411
  • familial adenomatous polyposis 3
Homo sapiens (human)
DOID:0080410
  • familial adenomatous polyposis 2
  • Aliases:
    • MUTYH-associated polyposis
    • MUTYH-related attenuated FAP
    • MUTYH-related attenuated familial adenomatous polyposis
    • MUTYH-related attenuated familial polyposis coli
Homo sapiens (human)
DOID:0080409
  • familial adenomatous polyposis 1
Homo sapiens (human)
DOID:0080390
  • nephrotic syndrome type 1
  • Aliases:
    • Finnish congenital nephrosis
Homo sapiens (human)
DOID:0080388
  • nephrotic syndrome type 7
  • Aliases:
    • Ig-mediated MPGN
    • Ig-mediated membranoproliferative glomerulonephritis
    • Immunoglobulin-mediated MPGN
    • immunoglobulin-mediated membranoproliferative glomerulonephritis
    • nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
Homo sapiens (human)
DOID:0080382
  • nephrotic syndrome type 3
  • Aliases:
    • early onset nephrotic syndrome type 3
Homo sapiens (human)
DOID:0080379
  • nephrotic syndrome type 2
  • Aliases:
    • steroid-resistant autosomal recessive nephrotic syndrome
Homo sapiens (human)
DOID:0080369
  • ovarian sex-cord stromal tumor
Homo sapiens (human)
DOID:0080367
  • chronic eosinophilic leukemia
Homo sapiens (human)
DOID:0080365
  • endometrial hyperplasia
Homo sapiens (human)
DOID:0080362
  • X-linked spondyloepiphyseal dysplasia tarda
Homo sapiens (human)
DOID:0080356
  • IgG4-related disease
Homo sapiens (human)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)

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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: August 19, 2024