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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 5901 - 5925 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0112209
  • developmental and epileptic encephalopathy 73
  • Aliases:
    • DEE73
    • early infantile epileptic encephalopathy 73
Mus musculus (house mouse)
DOID:0060037
  • developmental disorder of mental health
Homo sapiens (human)
DOID:0111608
  • distal arthrogryposis type 5
  • Aliases:
    • DA5
    • DAIIB
    • arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
    • distal arthrogryposis type IIB
    • distal arthrogryposis with ophthalmoplegia
    • oculomelic amyoplasia
Homo sapiens (human)
DOID:2997
  • Sertoli-Leydig cell tumor
Homo sapiens (human)
DOID:0070370
  • restrictive dermopathy 2
Mus musculus (house mouse)
DOID:0070295
  • primary autosomal dominant microcephaly 18
  • Aliases:
    • MCPH18
Mus musculus (house mouse)
DOID:11294
  • arteriovenous malformation
  • Aliases:
    • Arteriovenous hemangioma
    • Cirsoid aneurysm
    • Racemose Angioma
    • Racemose aneurysm
    • Racemose hemangioma
Drosophila melanogaster (fruit fly)
DOID:12930
  • dilated cardiomyopathy
  • Aliases:
    • primary dilated cardiomyopathy
Drosophila melanogaster (fruit fly)
DOID:9834
  • hyperopia
  • Aliases:
    • Far-sightedness
    • farsightedness
    • hypermetropia
Rattus norvegicus (Norway rat)
DOID:0060218
  • CREST syndrome
Caenorhabditis elegans
DOID:0060206
  • amyotrophic lateral sclerosis type 15
  • Aliases:
    • ALS15
    • amyotrophic lateral sclerosis 15
    • amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Homo sapiens (human)
DOID:14365
  • systemic primary carnitine deficiency disease
  • Aliases:
    • carnitine transporter deficiency
    • carnitine uptake defect
    • deficiency of plasma-membrane carnitine transporter
    • primary carnitine deficiency
    • renal carnitine transport defect
Caenorhabditis elegans
DOID:1214
  • tympanosclerosis
Mus musculus (house mouse)
DOID:14755
  • argininosuccinic aciduria
  • Aliases:
    • Argininosuccinate lyase deficiency
    • argininosuccinic acidemia
    • arginosuccinase deficiency
    • deficiency of argininosuccinate lyase
Mus musculus (house mouse)
DOID:13317
  • hyperinsulinemic hypoglycemia
  • Aliases:
    • Islet cell hyperplasia
    • nesidioblastosis
    • persistent hyperinsulinemia hypoglycemia of infancy
Drosophila melanogaster (fruit fly)
DOID:0050645
  • arterial tortuosity syndrome
Mus musculus (house mouse)
DOID:5394
  • prolactinoma
  • Aliases:
    • PITUITARY ADENOMA, PROLACTIN-SECRETING
    • Prolactinoma of Pituitary gland
    • familial prolactinoma
Mus musculus (house mouse)
DOID:0060233
  • cardiofaciocutaneous syndrome
  • Aliases:
    • CFC syndrome
    • cardio-facial-cutaneous syndrome
Mus musculus (house mouse)
DOID:4751
  • striatonigral degeneration
Rattus norvegicus (Norway rat)
DOID:11830
  • myopia
  • Aliases:
    • near vision
    • near-sightedness
    • short-sightedness
Mus musculus (house mouse)
DOID:0070418
  • vertebral hypersegmentation and orofacial anomalies
  • Aliases:
    • VHO
Homo sapiens (human)
DOID:0080234
  • Clark-Baraitser syndrome
  • Aliases:
    • Baraitser syndrome
    • CLABARS
    • autosomal dominant intellectual disability 49
    • autosomal dominant mental retardation 49
Mus musculus (house mouse)
DOID:11132
  • prostatic hypertrophy
Xenopus laevis (African clawed frog)
DOID:110
  • lens disease
Rattus norvegicus (Norway rat)
DOID:9245
  • Alagille syndrome
  • Aliases:
    • Alagille-Watson syndrome
    • Arteriohepatic dysplasia
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: December 9, 2024