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 3976 - 4000 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0050934
  • ovarian clear cell carcinoma
  • Aliases:
    • clear-cell ovarian carcinoma
Homo sapiens (human)
DOID:14669
  • acrodysostosis
Homo sapiens (human)
DOID:0070182
  • spermatogenic failure 13
  • Aliases:
    • SPGF13
Homo sapiens (human)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Homo sapiens (human)
DOID:8649
  • tongue cancer
  • Aliases:
    • malignant neoplasm of tongue
Homo sapiens (human)
DOID:0080336
  • mitochondrial DNA depletion syndrome 14
Homo sapiens (human)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Homo sapiens (human)
DOID:0111807
  • syndromic microphthalmia 9
  • Aliases:
    • Matthew-Wood syndrome
    • anophthalmia-pulmonary hypoplasia syndrome
    • anophthalmia/microphthalmia and pulmonary hypoplasia
    • clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
    • pulmonary agenesis microphthalmi and diaphragmatic defect
    • spear syndrome
Homo sapiens (human)
DOID:0080773
  • delta beta-thalassemia
Homo sapiens (human)
DOID:0080943
  • 46,XX sex reversal 5
Homo sapiens (human)
DOID:0111896
  • Diamond-Blackfan anemia 18
  • Aliases:
    • DBA18
    • RPL18-related Diamond-Blackfan anemia
Homo sapiens (human)
DOID:231
  • motor neuron disease
Homo sapiens (human)
DOID:9432
  • renal glycosuria
  • Aliases:
    • renal diabetes
Homo sapiens (human)
DOID:13550
  • angle-closure glaucoma
  • Aliases:
    • ACG - Angle-closure glaucoma
    • Angle Closure Glaucoma
    • Closed angle glaucoma
    • Narrow cleft glaucoma
    • primary open-angle glaucoma with narrow angles
Homo sapiens (human)
DOID:0080737
  • Ehlers-Danlos syndrome musculocontractural type 2
Homo sapiens (human)
DOID:0110876
  • holoprosencephaly 7
  • Aliases:
    • HPE7
Homo sapiens (human)
DOID:0111662
  • ectodermal dysplasia 14
  • Aliases:
    • ECTN14
    • ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Homo sapiens (human)
DOID:1996
  • rectum adenocarcinoma
  • Aliases:
    • Rectal adenocarcinoma
Homo sapiens (human)
DOID:0110015
  • age related macular degeneration 2
  • Aliases:
    • ARMD2
Homo sapiens (human)
DOID:0001816
  • angiosarcoma
  • Aliases:
    • hemangiosarcoma
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Homo sapiens (human)
DOID:0112075
  • nuclear type mitochondrial complex I deficiency 10
  • Aliases:
    • MC1DN10
Homo sapiens (human)
DOID:11829
  • degenerative myopia
  • Aliases:
    • degenerative progressive high myopia
    • pathological myopia
    • progressive high (degenerative) myopia
    • progressive high myopia
Homo sapiens (human)
DOID:0070482
  • spinal neurofibromatosis
  • Aliases:
    • FNSF
    • SNF
    • familial spinal neurofibromatosis
Homo sapiens (human)
DOID:6726
  • fibrillary astrocytoma
  • Aliases:
    • Fibrillary Astrocytic tumors
Homo sapiens (human)

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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