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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 6476 - 6500 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0060799
  • syndromic X-linked intellectual disability Lubs type
  • Aliases:
    • Lubs X-linked mental retardation syndrome
    • MECP2 duplication syndrome
    • MRXSL
    • X-linked intellectual disability-hypotonia-recurrent Infections syndrome
    • mental retardation, X-linked, syndromic, Lubs type
    • mental retardation, X-linked, with recurrent respiratory infections
Homo sapiens (human)
DOID:891
  • progressive myoclonus epilepsy
  • Aliases:
    • PME
    • progressive myoclonic epilepsy
Homo sapiens (human)
DOID:0110713
  • Oguchi disease-2
  • Aliases:
    • CSNBO2
    • congenital stationary night blindness Oguchi type 2
Homo sapiens (human)
DOID:3211
  • lysosomal storage disease
  • Aliases:
    • disorder of lysosomal enzyme
    • inborn lysosomal enzyme disorder
    • lysosomal storage metabolism disorder
Homo sapiens (human)
DOID:0110569
  • autosomal dominant nonsyndromic deafness 44
  • Aliases:
    • DFNA44
    • autosomal dominant deafness 44
Homo sapiens (human)
DOID:0080209
  • sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
  • Aliases:
    • SIFD
Homo sapiens (human)
DOID:0112334
  • pontocerebellar hypoplasia type 1C
  • Aliases:
    • PCH1C
Homo sapiens (human)
DOID:0080001
  • bone disease
Homo sapiens (human)
DOID:4330
  • non-Langerhans-cell histiocytosis
Homo sapiens (human)
DOID:11716
  • prediabetes syndrome
  • Aliases:
    • Prediabetes
    • impaired glucose tolerance
    • prediabetic state
Homo sapiens (human)
DOID:0050830
  • peripheral artery disease
Homo sapiens (human)
DOID:13372
  • alpha 1-antitrypsin deficiency
  • Aliases:
    • AAT deficiency
Homo sapiens (human)
DOID:0060342
  • acromelic frontonasal dysostosis
Homo sapiens (human)
DOID:0080690
  • RASopathy
  • Aliases:
    • RAS/mitogen-activated protein kinase syndrome
Homo sapiens (human)
DOID:0110144
  • Bartter disease type 3
  • Aliases:
    • BARTS3
    • Bartter syndrome type 3
    • classic Bartter syndrome
Homo sapiens (human)
DOID:2773
  • contact dermatitis
  • Aliases:
    • Contact dermatitis/eczema
    • Contact eczema
    • Dermatitis, venenata
    • dermatitis venenata
Homo sapiens (human)
DOID:0111769
  • 46,XY sex reversal 6
  • Aliases:
    • 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
    • 46,XY sex reversal, partial or complete, MAP3K1-related
    • SRXY6
Homo sapiens (human)
DOID:0112382
  • muscular dystrophy-dystroglycanopathy type C8
  • Aliases:
    • LGMDR24
    • MDDGC2
    • autosomal recessive limb-girdle muscular dystrophy 24
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Homo sapiens (human)
DOID:0080072
  • intestinal pseudo-obstruction
  • Aliases:
    • Chronic intestinal pseudo-obstruction
    • neuronal intestinal dysplasia
Homo sapiens (human)
DOID:0110841
  • Usher syndrome type 3A
  • Aliases:
    • USH3A
    • Usher syndrome type IIIA
Homo sapiens (human)
DOID:0111647
  • Schopf-Schulz-Passarge syndrome
  • Aliases:
    • SSPS
    • eccrine tumors-ectodermal dysplasia
    • keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
Homo sapiens (human)
DOID:0070537
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • Aliases:
    • SPATCCM
Homo sapiens (human)
DOID:0110490
  • autosomal recessive nonsyndromic deafness 31
  • Aliases:
    • DFNB31
    • autosomal recessive deafness 31
Homo sapiens (human)
DOID:0050524
  • maturity-onset diabetes of the young
  • Aliases:
    • MODY
    • Mason-type diabetes
Homo sapiens (human)
DOID:9835
  • refractive error
Homo sapiens (human)
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Last updated: December 9, 2024