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 7601 - 7625 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
Xenopus tropicalis (tropical clawed frog)
DOID:14499
  • Fabry disease
  • Aliases:
    • Alpha-galactosidase A deficiency
    • Angiokeratoma Corporis Diffusum
    • Fabry Disease, Cardiac Variant
    • Fabry's disease
    • alpha galactosidase deficiency
    • deficiency of melibiase
Danio rerio (zebrafish)
DOID:0111766
  • X-linked VACTERL association
  • Aliases:
    • VACTERL association, X-linked with or without hydrocephalus
    • VACTERLX
Mus musculus (house mouse)
DOID:7736
  • retinal telangiectasia
Homo sapiens (human)
DOID:9562
  • primary ciliary dyskinesia
  • Aliases:
    • ciliary motility disorder
    • immotile ciliary syndrome
Caenorhabditis elegans
DOID:3587
  • pancreatic ductal carcinoma
  • Aliases:
    • malignant neoplasm of duct of Wirsung
    • pancreatic duct cancer
Xenopus tropicalis (tropical clawed frog)
DOID:0070379
  • developmental and epileptic encephalopathy 6B
  • Aliases:
    • DEE6B
Drosophila melanogaster (fruit fly)
DOID:4001
  • ovarian carcinoma
Mus musculus (house mouse)
DOID:0060639
  • permanent neonatal diabetes mellitus
  • Aliases:
    • PDMI
    • PNDM
    • permanent diabetes mellitus of infancy
Drosophila melanogaster (fruit fly)
DOID:0080208
  • metabolic dysfunction-associated steatotic liver disease
  • Aliases:
    • MAFLD
    • MASLD
    • NAFLD
    • metabolic dysfunction-associated fatty liver disease
    • metabolic dysfunction-related steatotic liver disease
    • metabolic-associated fatty liver disease
    • non-alcoholic fatty liver disease
    • nonalcoholic fatty liver disease
Xenopus tropicalis (tropical clawed frog)
DOID:0110077
  • arrhythmogenic right ventricular dysplasia 9
  • Aliases:
    • ARVC9
    • ARVD9
    • arrhythmogenic right ventricular cardiomyopathy 9
    • familial arrhythmogenic right ventricular dysplasia 9
Mus musculus (house mouse)
DOID:0050793
  • short QT syndrome
Homo sapiens (human)
DOID:11721
  • glycogen storage disease VII
  • Aliases:
    • Glycogen storage disease 7
    • Glycogen storage disease, type VII
    • Muscle phosphofructokinase deficiency
    • glycogen storage disease type VII
    • phosphofructokinase myopathy
Homo sapiens (human)
DOID:0110934
  • nemaline myopathy 7
  • Aliases:
    • NEM7
    • nemaline myopathy 7, autosomal recessive
Homo sapiens (human)
DOID:1019
  • osteomyelitis
Mus musculus (house mouse)
DOID:2229
  • factor XI deficiency
  • Aliases:
    • Congenital factor XI deficiency
    • Hereditary factor XI deficiency disease
    • Rosenthal's disease
    • hemophilia C
    • plasma thromboplastin antecedent deficiency
Mus musculus (house mouse)
DOID:1564
  • fungal infectious disease
  • Aliases:
    • mycosis
Mus musculus (house mouse)
DOID:0090125
  • brain small vessel disease 1
  • Aliases:
    • BSVD1
    • COL4A1-related brain small vessel disease with hemorrhage
    • COL4A1-related familial vascular leukoencephalopathy
    • COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
    • autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy
    • brain small vessel disease with Axenfeld-Riegar anomaly
    • brain small vessel disease with hemorrhage
    • brain small vessel disease with or without ocular anomalies
    • infantile hemiparesis
    • leukoencephalopathy with Axenfeld-Riegar anomaly
Caenorhabditis elegans
DOID:0050440
  • familial partial lipodystrophy
  • Aliases:
    • Dunnigan Syndrome
    • Koberling-Dunnigan Syndrome
Homo sapiens (human)
DOID:0080178
  • mucositis
Rattus norvegicus (Norway rat)
DOID:0050866
  • oral squamous cell carcinoma
  • Aliases:
    • mouth squamous cell carcinoma
Saccharomyces cerevisiae S288C
DOID:4543
  • retrograde amnesia
Homo sapiens (human)
DOID:0110868
  • congenital stationary night blindness 1D
  • Aliases:
    • CSNB1D
    • congenital stationary night blindness 1D autosomal recessive
Mus musculus (house mouse)
DOID:9111
  • cutaneous leishmaniasis
  • Aliases:
    • Asian Desert Cutaneous Leishmaniasis
    • Leproid leishmaniasis
    • diffuse cutaneous leishmaniasis
Saccharomyces cerevisiae S288C
DOID:0050600
  • ABCD syndrome
  • Aliases:
    • ABCDS
    • albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Homo sapiens (human)

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Last updated: December 9, 2024