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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 1526 - 1550 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:7693
  • abdominal aortic aneurysm
  • Aliases:
    • AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
Homo sapiens (human)
DOID:0110639
  • congenital muscular dystrophy due to integrin alpha-7 deficiency
  • Aliases:
    • congenital muscular dystrophy with ITGA7 deficiency
    • congenital muscular dystrophy with integrin alpha-7 deficiency
    • congenital myopathy due to integrin alpha-7 deficiency
Homo sapiens (human)
DOID:0060202
  • amyotrophic lateral sclerosis type 11
  • Aliases:
    • ALS11
    • amyotrophic lateral sclerosis 11
Homo sapiens (human)
DOID:0060482
  • oculoauricular syndrome
Homo sapiens (human)
DOID:0110573
  • autosomal dominant nonsyndromic deafness 4A
  • Aliases:
    • DFNA4A
    • autosomal dominant deafness 4A
Homo sapiens (human)
DOID:13603
  • obstructive jaundice
  • Aliases:
    • Cholestatic Jaundice
    • Cholestatic jaundice syndrome
    • Obstructive hyperbilirubinemia
Homo sapiens (human)
DOID:0060564
  • spinal disease
Homo sapiens (human)
DOID:2999
  • granulosa cell tumor
  • Aliases:
    • Granulosa cell neoplasm
    • Granulosa cell tumor, adult type
    • Granulosa cell tumour, sarcomatoid
    • malignant granulosa cell neoplasm
Homo sapiens (human)
DOID:2750
  • glycogen storage disease IV
  • Aliases:
    • Amylopectinosis
    • Branching-transferase deficiency glycogenosis
    • Glycogen storage disease 4
    • Glycogen storage disease, type IV
    • brancher deficiency glycogenosis
    • deficiency of 1,4-alpha-glucan branching enzyme
Homo sapiens (human)
DOID:0070516
  • Mitchell syndrome
Homo sapiens (human)
DOID:0080506
  • Cornelia de Lange syndrome 2
Homo sapiens (human)
DOID:0080899
  • lung pleomorphic carcinoma
Homo sapiens (human)
DOID:13271
  • cutaneous porphyria
  • Aliases:
    • Erythropoietic porphyria
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Homo sapiens (human)
DOID:0111562
  • overhydrated hereditary stomatocytosis
  • Aliases:
    • OHS
    • potassium sodium disorder of erythrocyte
    • stomatocytosisIOHST
Homo sapiens (human)
DOID:3209
  • junctional epidermolysis bullosa
  • Aliases:
    • congenital junctional epidermolysis bullosa
Homo sapiens (human)
DOID:0110916
  • hereditary spherocytosis type 1
  • Aliases:
    • HS1
    • SPH1
    • hereditary spherocytosis 1
Homo sapiens (human)
DOID:0060786
  • hypomyelinating leukodystrophy
  • Aliases:
    • HLD
Homo sapiens (human)
DOID:654
  • overnutrition
Homo sapiens (human)
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Homo sapiens (human)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Homo sapiens (human)
DOID:0081223
  • glycosylphosphatidylinositol biosynthesis defect 16
  • Aliases:
    • Intellectual developmental disorder, autosomal recessive 62
Homo sapiens (human)
DOID:3343
  • glycoproteinosis
  • Aliases:
    • Mucolipidosis type I
    • sialidosis
Homo sapiens (human)
DOID:13994
  • cleidocranial dysplasia
  • Aliases:
    • Marie-Sainton Disease
    • cleidocranial dysostosis
Homo sapiens (human)
DOID:0050486
  • exanthem
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025