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 4151 - 4175 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
Homo sapiens (human)
DOID:0080887
  • vitamin D-dependent rickets type 1B
Homo sapiens (human)
DOID:9563
  • bronchiectasis
  • Aliases:
    • Polynesian bronchiectasis
Homo sapiens (human)
DOID:10811
  • nasal cavity cancer
  • Aliases:
    • malignant neoplasm of nasal cavities
    • malignant tumor of the nasal cavity
Homo sapiens (human)
DOID:0070130
  • autosomal dominant cutis laxa 1
  • Aliases:
    • ADCL1
Homo sapiens (human)
DOID:10892
  • hypospadias
  • Aliases:
    • familial hypospadias
Homo sapiens (human)
DOID:0110433
  • dilated cardiomyopathy 1E
  • Aliases:
    • CDCD2
    • CMD1E
    • dilated cardiomyopathy with conduction defect 2
    • dilated cardiomyopathy with conduction disorder and arrhythmia
Homo sapiens (human)
DOID:12297
  • Vogt-Koyanagi-Harada disease
  • Aliases:
    • Harada's disease
    • Vogt-Koyanagi syndrome
    • uveomeningoencephalitic syndrome
Homo sapiens (human)
DOID:0060875
  • isolated growth hormone deficiency type III
  • Aliases:
    • Fleisher syndrome
    • IGHD III
    • X-linked IGHD
    • X-linked agammaglobulinemia and isolated growth hormone deficiency
    • X-linked hypogammaglobulinemia and isolated growth hormone deficiency
    • X-linked isolated growth hormone deficiency
    • congenital IGHD type III
    • congenital isolated GH deficiency type III
    • congenital isolated growth hormone deficiency type III
    • growth hormone deficiency with hypogammaglobulinemia
Homo sapiens (human)
DOID:10071
  • larynx squamous papilloma
  • Aliases:
    • Laryngeal Squamous Cell Papilloma
Homo sapiens (human)
DOID:1070
  • primary open angle glaucoma
  • Aliases:
    • chronic simple glaucoma
Homo sapiens (human)
DOID:2977
  • primary hyperoxaluria
Homo sapiens (human)
DOID:13507
  • trigonitis
Homo sapiens (human)
DOID:9597
  • Krukenberg carcinoma
  • Aliases:
    • Krukenberg neoplasm
Homo sapiens (human)
DOID:0060270
  • pontocerebellar hypoplasia type 2D
Homo sapiens (human)
DOID:0070264
  • congenital disorder of glycosylation type IIl
  • Aliases:
    • CDG IIl
    • CDG syndrome type IIL
    • CDG2L
    • CDGIIdl
    • COG6-CGD
    • Congenital disorder of glycosylation type 2l
Homo sapiens (human)
DOID:12241
  • beta thalassemia
Homo sapiens (human)
DOID:5327
  • retinal detachment
Homo sapiens (human)
DOID:0060766
  • autosomal dominant Robinow syndrome 1
  • Aliases:
    • DRS1
Homo sapiens (human)
DOID:10944
  • tongue disease
Homo sapiens (human)
DOID:5695
  • childhood liposarcoma
  • Aliases:
    • pediatric liposarcoma
Homo sapiens (human)
DOID:0110827
  • Usher syndrome type 2
  • Aliases:
    • USH2
Homo sapiens (human)
DOID:319
  • spinal cord disease
Homo sapiens (human)
DOID:3529
  • congenital myopathy 1A
  • Aliases:
    • central core disease
    • central core myopathy
Homo sapiens (human)
DOID:11105
  • fundus albipunctatus
  • Aliases:
    • Pigmentary retinal dystrophy
    • retinitis punctata albescens
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