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 3426 - 3450 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0001816
  • angiosarcoma
  • Aliases:
    • hemangiosarcoma
Homo sapiens (human)
DOID:14292
  • vulvar dystrophy
  • Aliases:
    • Dystrophy of vulva
Homo sapiens (human)
DOID:13477
  • balanitis xerotica obliterans
  • Aliases:
    • Penile Lichen Sclerosus
Homo sapiens (human)
DOID:8616
  • Peyronie's disease
  • Aliases:
    • Induratio penis plastica
    • Peyronie disease
    • Peyronie's Fibromatosis
Homo sapiens (human)
DOID:4680
  • breast metaplastic carcinoma
  • Aliases:
    • Metaplastic carcinoma of the breast
Homo sapiens (human)
DOID:0080055
  • achondrogenesis type IB
  • Aliases:
    • achondrogenesis Fraccaro type
Homo sapiens (human)
DOID:0060445
  • congenital stromal corneal dystrophy
  • Aliases:
    • CSCD
    • congenital hereditary stromal dystrophy
Homo sapiens (human)
DOID:0060452
  • posterior amorphous corneal dystrophy
  • Aliases:
    • PACD
    • chromosome 12q21.33 deletion syndrome
Homo sapiens (human)
DOID:9432
  • renal glycosuria
  • Aliases:
    • renal diabetes
Homo sapiens (human)
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Homo sapiens (human)
DOID:0080569
  • congenital disorder of glycosylation Ir
  • Aliases:
    • congenital disorder of glycosylation 1r
Homo sapiens (human)
DOID:0070399
  • hypomyelinating leukodystrophy 18
  • Aliases:
    • HLD18
Homo sapiens (human)
DOID:0060786
  • hypomyelinating leukodystrophy
  • Aliases:
    • HLD
Homo sapiens (human)
DOID:0060780
  • congenital diarrhea 6
  • Aliases:
    • chronic diarrhea due to guanylate cyclase 2C overactivity
    • chronic diarrhoea due to guanylate cyclase 2C overactivity
    • congenital diarrhoea 6
Homo sapiens (human)
DOID:0060779
  • congenital malabsorptive diarrhea 4
  • Aliases:
    • congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
    • congenital malabsorptive diarrhoea 4
    • congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
    • enteric anendocrinosis
Homo sapiens (human)
DOID:0060775
  • microvillus inclusion disease
  • Aliases:
    • Davidson disease
    • MVD
    • congenital familial protracted diarrhea with enterocyte brush-border abnormalities
    • congenital microvillus atrophy
    • diarrhea 2 with microvillus atrophy
    • intractable diarrhea of infancy
Homo sapiens (human)
DOID:0060778
  • congenital diarrhea 7 with exudative enteropathy
  • Aliases:
    • congenital chronic diarrhea with exudative enteropathy
    • congenital chronic diarrhea with protein-losing enteropathy
    • congenital chronic diarrhoea with exudative enteropathy
    • congenital chronic diarrhoea with protein-losing enteropathy
    • congenital diarrhoea 7 with exudative enteropathy
Homo sapiens (human)
DOID:2012
  • Nezelof syndrome
  • Aliases:
    • Nezelof's syndrome
    • T-cell immunodeficiency with thymic aplasia
    • TIDTA
    • thymic aplasia
    • thymic dysplasia with normal immunoglobulins
Homo sapiens (human)
DOID:0060878
  • hypoparathyroidism-deafness-renal disease syndrome
  • Aliases:
    • Barakat syndrome
    • HDR syndrome
    • hypoparathyroidism, sensorineural deafness, and renal disease
Homo sapiens (human)
DOID:2920
  • membranoproliferative glomerulonephritis
  • Aliases:
    • Lobular glomerulonephritis
    • chronic glomerulonephritis, lobular
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:0080200
  • bilateral renal aplasia
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)
DOID:4297
  • scimitar syndrome
  • Aliases:
    • Halasz syndrome
    • congenital venolobar syndrome
    • hypogenetic lung syndrome
    • mirror-image lung syndrome
    • pulmonary venolobar syndrome
    • total anomalous pulmonary venous return
    • vena cava bronchovascular syndrome
Homo sapiens (human)
DOID:11818
  • ureteric orifice cancer
  • Aliases:
    • Orifice of the Ureter
    • malignant neoplasm of ureteric orifice of urinary bladder
    • malignant tumor of ureteric orifice
Homo sapiens (human)

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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