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 426 - 450 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:2383
  • neonatal jaundice
  • Aliases:
    • neonatal hyperbilirubinemia
    • neonatal icterus
Saccharomyces cerevisiae S288C
DOID:9279
  • hyperhomocysteinemia
Saccharomyces cerevisiae S288C
DOID:5426
  • primary ovarian insufficiency
  • Aliases:
    • hypergonadotropic hypogonadism
    • premature ovarian failure
    • premature ovarian insufficiency
Saccharomyces cerevisiae S288C
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Saccharomyces cerevisiae S288C
DOID:0080858
  • primary ovarian insufficiency 2A
Saccharomyces cerevisiae S288C
DOID:0110541
  • autosomal dominant nonsyndromic deafness 1
  • Aliases:
    • DFNA1
    • Konigsmark syndrome
    • LFHL1
    • autosomal dominant deafness 1
    • autosomal dominant deafness 1, with or without thrombocytopenia
    • hereditary low frequency hearing loss 1
Saccharomyces cerevisiae S288C
DOID:0060589
  • Yunis-Varon syndrome
  • Aliases:
    • cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
    • cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Saccharomyces cerevisiae S288C
DOID:0060202
  • amyotrophic lateral sclerosis type 11
  • Aliases:
    • ALS11
    • amyotrophic lateral sclerosis 11
Saccharomyces cerevisiae S288C
DOID:0110184
  • Charcot-Marie-Tooth disease type 4J
  • Aliases:
    • CMT4J
    • autosomal recessive Charcot-Marie-Tooth disease type 4J
Saccharomyces cerevisiae S288C
DOID:0080923
  • bilateral parasagittal parieto-occipital polymicrogyria
  • Aliases:
    • bilateral temporooccipital polymicrogyria
Saccharomyces cerevisiae S288C
DOID:0050776
  • non-syndromic X-linked intellectual disability
  • Aliases:
    • non-specific X-linked mental retardation
Saccharomyces cerevisiae S288C
DOID:0060404
  • chromosome 17q12 deletion syndrome
  • Aliases:
    • 17q12 microdeletion syndrome
Saccharomyces cerevisiae S288C
DOID:0080072
  • intestinal pseudo-obstruction
  • Aliases:
    • Chronic intestinal pseudo-obstruction
    • neuronal intestinal dysplasia
Saccharomyces cerevisiae S288C
DOID:14040
  • autoimmune polyendocrine syndrome
  • Aliases:
    • Autoimmune polyglandular failure
    • Lloyd's syndrome
    • autoimmune polyendocrinopathy
Saccharomyces cerevisiae S288C
DOID:178
  • vascular disease
  • Aliases:
    • vascular tissue disease
Saccharomyces cerevisiae S288C
DOID:11702
  • dysgammaglobulinemia
Saccharomyces cerevisiae S288C
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Saccharomyces cerevisiae S288C
DOID:0060887
  • ossification of the posterior longitudinal ligament of spine
  • Aliases:
    • OPLL
Rattus norvegicus (Norway rat)
DOID:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Saccharomyces cerevisiae S288C
DOID:0110790
  • hereditary spastic paraplegia 39
  • Aliases:
    • NTE-related motor neuron disorder
    • NTEMND
    • SPG39
    • autosomal recessive spastic paraplegia 39
    • autosomal recessive spastic paraplegia type 39
    • spastic paraplegia due to NTE mutation
    • spastic paraplegia due to neuropathy target esterase mutation
Saccharomyces cerevisiae S288C
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Saccharomyces cerevisiae S288C
DOID:0050753
  • cerebellar ataxia
Saccharomyces cerevisiae S288C
DOID:1930
  • Laurence-Moon syndrome
  • Aliases:
    • LNMS
Saccharomyces cerevisiae S288C
DOID:3314
  • angiomyolipoma
Saccharomyces cerevisiae S288C
DOID:0002116
  • pterygium
  • Aliases:
    • surfer's eye
Saccharomyces cerevisiae S288C

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Last updated: December 9, 2024