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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 8601 - 8625 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0070139
  • autosomal recessive cutis laxa type IC
  • Aliases:
    • ARCL1C
    • autosomal recessive cutis laxa type 1C
Mus musculus (house mouse)
DOID:13689
  • prostate calculus
  • Aliases:
    • Prostatic lithiasis
    • Prostatic stone
    • Stone of prostate
    • calculus of prostate
Mus musculus (house mouse)
DOID:14720
  • Ehlers-Danlos syndrome classic type 1
  • Aliases:
    • Ehlers-Danlos syndrome, type 1
    • type I Ehlers-Danlos syndrome
Rattus norvegicus (Norway rat)
DOID:2907
  • Goldenhar syndrome
  • Aliases:
    • Facio-auriculo-vertebral spectrum
    • First AND second branchial arch syndrome
    • First arch syndrome
    • HEMIFACIAL MICROSOMIA
    • OAV (oculoauriculovertebral) dysplasia
    • Otomandibular dysostosis
Mus musculus (house mouse)
DOID:3753
  • Hermansky-Pudlak syndrome
Caenorhabditis elegans
DOID:0112228
  • lissencephaly 9 with complex brainstem malformation
  • Aliases:
    • LIS9
    • posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Homo sapiens (human)
DOID:573
  • nerve compression syndrome
  • Aliases:
    • Compression neuropathy
    • entrapment neuropathy
    • peripheral nerve entrapment syndrome
Homo sapiens (human)
DOID:0110820
  • hereditary spastic paraplegia 75
  • Aliases:
    • SPG75
    • autosomal recessive spastic paraplegia 75
    • autosomal recessive spastic paraplegia type 75
Homo sapiens (human)
DOID:0110147
  • Bartter disease type 5
  • Aliases:
    • BARTS5
    • Bartter syndrome, type 5, antenatal, transient
Homo sapiens (human)
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Homo sapiens (human)
DOID:0111839
  • congenital disorder of glycosylation Icc
  • Aliases:
    • congenital disorder of glycosylation type Icc
Homo sapiens (human)
DOID:0111988
  • immunodeficiency 12
  • Aliases:
    • IMD12
    • combined immunodeficiency due to MALT1 deficiency
Homo sapiens (human)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Homo sapiens (human)
DOID:3413
  • alpha-mannosidosis
  • Aliases:
    • Alpha-D-mannosidosis
    • alpha-mannosidase deficiency
    • deficiency of alpha-mannosidase
Homo sapiens (human)
DOID:3633
  • beta-mannosidosis
  • Aliases:
    • Beta-D-mannosidosis
    • beta-mannosidase deficiency
    • lysosomal beta-mannosidase deficiency
Homo sapiens (human)
DOID:0060693
  • Brunner Syndrome
  • Aliases:
    • monoamine oxidase A deficiency
Homo sapiens (human)
DOID:11088
  • asphyxia neonatorum
  • Aliases:
    • Asphyxia - birth
    • Asphyxia, in liveborn infant
    • Birth asphyxia
    • postnatal asphyxia
Homo sapiens (human)
DOID:4906
  • small intestine adenocarcinoma
  • Aliases:
    • small intestinal adenocarcinoma
Homo sapiens (human)
DOID:4253
  • melorheostosis
Homo sapiens (human)
DOID:0111462
  • cardiofaciocutaneous syndrome 3
  • Aliases:
    • CFC3
Homo sapiens (human)
DOID:0111463
  • cardiofaciocutaneous syndrome 4
  • Aliases:
    • CFC4
Homo sapiens (human)
DOID:0050933
  • ovarian serous carcinoma
Homo sapiens (human)
DOID:678
  • progressive supranuclear palsy
  • Aliases:
    • Steele-Richardson-Olszewski syndrome
    • progressive supranuclear ophthalmoplegia
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:0080763
  • diffuse gastric cancer
Homo sapiens (human)
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Last updated: December 9, 2024