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 July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1826 - 1850 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:9888
  • alternating esotropia
Homo sapiens (human)
DOID:0110246
  • cataract 26 multiple types
  • Aliases:
    • CTRCT26
Homo sapiens (human)
DOID:14286
  • neurogenic arthropathy
  • Aliases:
    • Arthropathy associated with neurological disorder
    • Charcot's arthropathy
    • Neuropathic arthropathy
Homo sapiens (human)
DOID:0080932
  • primary localized cutaneous amyloidosis 3
  • Aliases:
    • Amyloidosis cutis dyschromica
Homo sapiens (human)
DOID:4717
  • extragonadal germ cell cancer
  • Aliases:
    • extragonadal germ cell malignant tumor
    • neoplasm of Extragonadal germ cell
Homo sapiens (human)
DOID:0060842
  • isolated microphthalmia 3
  • Aliases:
    • MCOP3
Homo sapiens (human)
DOID:0090044
  • dystonia 9
Homo sapiens (human)
DOID:0080029
  • autosomal recessive spinocerebellar ataxia 16
  • Aliases:
    • SCAR16
Homo sapiens (human)
DOID:11162
  • respiratory failure
  • Aliases:
    • acute and chronic respiratory failure
    • acute respiratory Failure
    • acute-on-chronic respiratory failure
    • chronic respiratory failure
    • respiratory insufficiency/failure
Homo sapiens (human)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Homo sapiens (human)
DOID:216
  • dental caries
  • Aliases:
    • Dental caries extending into pulp
    • Dental caries of smooth surface
    • Dental caries pit and fissure
Homo sapiens (human)
DOID:4795
  • GM2 gangliosidosis, AB variant
  • Aliases:
    • Tay-Sachs disease AB variant
    • Tay-Sachs disease, variant AB
Homo sapiens (human)
DOID:9191
  • diabetic macular edema
Homo sapiens (human)
DOID:0090016
  • chromosome 5q deletion syndrome
  • Aliases:
    • 5q- syndrome, refractory macrocytic anemia due to 5q deletion
    • myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Homo sapiens (human)
DOID:4441
  • dysgerminoma
Homo sapiens (human)
DOID:7365
  • Kimura disease
  • Aliases:
    • Kimura's disease
Homo sapiens (human)
DOID:0112152
  • CHIME syndrome
  • Aliases:
    • PIGL-CDG
    • Zunich neuroectodermal syndrome
    • Zunich-Kaye syndrome
    • coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
    • congenital disorder of glycosylation due to PIGL deficiency
    • neuroectodermal dysplasia, CHIME type
    • neuroectodermal syndrome, Zunich type
Homo sapiens (human)
DOID:0050431
  • arrhythmogenic right ventricular cardiomyopathy
  • Aliases:
    • ARVC
    • ARVC cardiomyopathy
    • ARVD
    • arrhythmogenic right ventricular dysplasia
    • arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • right ventricular ACM
Homo sapiens (human)
DOID:11175
  • enophthalmos
Homo sapiens (human)
DOID:0110227
  • cataract 32 multiple types
  • Aliases:
    • CTRCT32
Homo sapiens (human)
DOID:0110064
  • amelogenesis imperfecta type 1H
  • Aliases:
    • AI1H
    • amelogenesis imperfecta type IH
Homo sapiens (human)
DOID:10966
  • lipoid nephrosis
  • Aliases:
    • Minimal Change Glomerulonephritis
    • Minimal change disease
    • Nephrotic syndrome with lesion of minimal change glomerulonephritis
    • Nephrotic syndrome with lesion of minimal change nephrotic syndrome
Homo sapiens (human)
DOID:0110704
  • hypotrichosis 7
  • Aliases:
    • Hypt7
    • Lah2
    • hypotrichosis, localized, autosomal recessive 2
    • total Mari type hypotrichosis,
Homo sapiens (human)
DOID:13902
  • white piedra
  • Aliases:
    • Tinea blanca
Homo sapiens (human)
DOID:13207
  • proliferative diabetic retinopathy
  • Aliases:
    • PDR
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024