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 10151 - 10175 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
Drosophila melanogaster (fruit fly)
DOID:104
  • bacterial infectious disease
Danio rerio (zebrafish)
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Danio rerio (zebrafish)
DOID:0111839
  • congenital disorder of glycosylation Icc
  • Aliases:
    • congenital disorder of glycosylation type Icc
Danio rerio (zebrafish)
DOID:612
  • primary immunodeficiency disease
  • Aliases:
    • hypoimmunity
    • immune deficiency disorder
    • immunodeficiency syndrome
Danio rerio (zebrafish)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Drosophila melanogaster (fruit fly)
DOID:11198
  • DiGeorge syndrome
  • Aliases:
    • 22q11.2 deletion syndrome
    • DiGeorge sequence
    • DiGeorge's syndrome
    • Pharyngeal pouch syndrome
Drosophila melanogaster (fruit fly)
DOID:12583
  • velocardiofacial syndrome
  • Aliases:
    • Shprintzen syndrome
    • VCF-Velocardiofacial syndrome
Drosophila melanogaster (fruit fly)
DOID:1919
  • Lesch-Nyhan syndrome
  • Aliases:
    • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
    • HG-PRT deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
    • Lesch - Nyhan syndrome
    • X-linked hyperuricemia
    • deficiency of IMP pyrophosphorylase
    • hypoxanthine guanine phosphoribosyltransferase deficiency
Homo sapiens (human)
DOID:0112127
  • HRPT-related hyperuricemia
  • Aliases:
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Kelley-Seegmiller syndrome
    • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • hypoxanthine guanine phosphoribosyltransferase partial deficiency
Homo sapiens (human)
DOID:0050161
  • lower respiratory tract disease
Drosophila melanogaster (fruit fly)
DOID:8947
  • diabetic retinopathy
  • Aliases:
    • Retinal abnormality - diabetes-related
Drosophila melanogaster (fruit fly)
DOID:0050827
  • rheumatic heart disease
  • Aliases:
    • rheumatic carditis
Drosophila melanogaster (fruit fly)
DOID:3319
  • lymphangioleiomyomatosis
  • Aliases:
    • lung lymphangioleiomyomatosis
    • lymphangiomyomatosis
    • pulmonary lymphangioleiomyomatosis
Drosophila melanogaster (fruit fly)
DOID:0050888
  • syndromic intellectual disability
Drosophila melanogaster (fruit fly)
DOID:0060307
  • autosomal dominant intellectual developmental disorder
  • Aliases:
    • autosomal dominant mental retardation
    • autosomal dominant non-syndromic mental retardation
Drosophila melanogaster (fruit fly)
DOID:10907
  • microcephaly
  • Aliases:
    • Microcephalus
    • microencephaly
Drosophila melanogaster (fruit fly)
DOID:0070056
  • autosomal dominant intellectual developmental disorder 26
  • Aliases:
    • MRD26
    • autosomal dominant mental retardation 26
    • autosomal dominant non-syndromic intellectual disability 26
Drosophila melanogaster (fruit fly)
DOID:13413
  • hepatic encephalopathy
  • Aliases:
    • Portal-systemic encephalopathy
Drosophila melanogaster (fruit fly)
DOID:9976
  • heroin dependence
Drosophila melanogaster (fruit fly)
DOID:0060037
  • developmental disorder of mental health
Drosophila melanogaster (fruit fly)
DOID:0080428
  • developmental and epileptic encephalopathy 45
  • Aliases:
    • DEE45
    • early infantile epileptic encephalopathy 45
Drosophila melanogaster (fruit fly)
DOID:0111292
  • idiopathic generalized epilepsy 10
  • Aliases:
    • EIG10
Drosophila melanogaster (fruit fly)
DOID:0080447
  • developmental and epileptic encephalopathy 43
  • Aliases:
    • DEE43
    • early infantile epileptic encephalopathy 43
Drosophila melanogaster (fruit fly)
DOID:0080471
  • developmental and epileptic encephalopathy 92
Drosophila melanogaster (fruit fly)

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Last updated: December 9, 2024