GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 7251 - 7275 of 7942 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0060253
  • scapuloperoneal myopathy
Homo sapiens (human)
DOID:0060252
  • sclerocornea
  • Aliases:
    • isolated congenital sclerocornea
Homo sapiens (human)
DOID:0060250
  • idiopathic scoliosis
Homo sapiens (human)
DOID:0060249
  • scoliosis
Homo sapiens (human)
DOID:0060248
  • Simpson-Golabi-Behmel syndrome type 1
  • Aliases:
    • DGSX Golabi-Rosen syndrome
    • Golabi-Rosen syndrome
    • SGB syndrome
    • Sara Angers syndrome
    • Simpson dysmorphia syndrome
    • X-linked dysplasia gigantism syndrome
    • bulldog syndrome
Drosophila melanogaster (fruit fly)
DOID:0060248
  • Simpson-Golabi-Behmel syndrome type 1
  • Aliases:
    • DGSX Golabi-Rosen syndrome
    • Golabi-Rosen syndrome
    • SGB syndrome
    • Sara Angers syndrome
    • Simpson dysmorphia syndrome
    • X-linked dysplasia gigantism syndrome
    • bulldog syndrome
Homo sapiens (human)
DOID:0060247
  • Smith-McCort dysplasia
Homo sapiens (human)
DOID:0060246
  • MASA syndrome
  • Aliases:
    • CRASH syndrome
    • Gareis-Mason syndrome
    • L1 syndrome
    • SPG1
    • X-linked complicated hereditary spastic paraplegia type 1
    • X-linked corpus callosum agenesis
    • X-linked spastic paraplegia 1
    • hereditary spastic paraplegia 1
Homo sapiens (human)
DOID:0060245
  • Mast syndrome
  • Aliases:
    • SPG21
    • autosomal recessive spastic paraplegia 21
    • autosomal recessive spastic paraplegia type 21
    • hereditary spastic paraplegia 21
Homo sapiens (human)
DOID:0060243
  • stuttering
  • Aliases:
    • familial persistent stuttering
    • stammering
Homo sapiens (human)
DOID:0060239
  • Van der Woude syndrome
Homo sapiens (human)
DOID:0060235
  • carnitine palmitoyltransferase II deficiency
  • Aliases:
    • CPT-II
    • infantile carnitine palmitoyltransferase II deficiency
    • late-onset carnitine palmitoyltransferase II deficiency
    • lethal neonatal carnitine palmitoyltransferase II deficiency
Homo sapiens (human)
DOID:0060233
  • cardiofaciocutaneous syndrome
  • Aliases:
    • CFC syndrome
    • cardio-facial-cutaneous syndrome
Homo sapiens (human)
DOID:0060233
  • cardiofaciocutaneous syndrome
  • Aliases:
    • CFC syndrome
    • cardio-facial-cutaneous syndrome
Mus musculus (house mouse)
DOID:0060232
  • branchiootic syndrome
  • Aliases:
    • BO syndrome
    • BOR
    • branchiootic dysplasia
Homo sapiens (human)
DOID:0060231
  • Bruck syndrome
  • Aliases:
    • osteogenesis imperfecta with congenital joint contractures
Drosophila melanogaster (fruit fly)
DOID:0060230
  • basal ganglia calcification
  • Aliases:
    • Fahr disease
Homo sapiens (human)
DOID:0060230
  • basal ganglia calcification
  • Aliases:
    • Fahr disease
Mus musculus (house mouse)
DOID:0060229
  • Baraitser-Winter syndrome
Homo sapiens (human)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Drosophila melanogaster (fruit fly)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Mus musculus (house mouse)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Homo sapiens (human)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Danio rerio (zebrafish)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Caenorhabditis elegans

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024