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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 376 - 400 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0060230
  • basal ganglia calcification
  • Aliases:
    • Fahr disease
Homo sapiens (human)
DOID:0060233
  • cardiofaciocutaneous syndrome
  • Aliases:
    • CFC syndrome
    • cardio-facial-cutaneous syndrome
Homo sapiens (human)
DOID:0060234
  • Carpenter syndrome
  • Aliases:
    • acrocephalopolysyndactyly type II
Homo sapiens (human)
DOID:0060240
  • UV-sensitive syndrome
Homo sapiens (human)
DOID:0060241
  • 3-M syndrome
  • Aliases:
    • Le Merrer syndrome
    • Miller-McKusick-Malvaux syndrome
    • Yakut short stature syndrome
    • dolichospondylic dysplasia
    • gloomy face syndrome
    • three M syndrome
Homo sapiens (human)
DOID:0060242
  • synpolydactyly
  • Aliases:
    • syndactyly type 2
Homo sapiens (human)
DOID:0060244
  • specific language impairment
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:0060247
  • Smith-McCort dysplasia
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
Homo sapiens (human)
DOID:0060249
  • scoliosis
Homo sapiens (human)
DOID:0060250
  • idiopathic scoliosis
Homo sapiens (human)
DOID:0060251
  • sclerosteosis
Homo sapiens (human)
DOID:0060253
  • scapuloperoneal myopathy
Homo sapiens (human)
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Homo sapiens (human)
DOID:0060256
  • Dowling-Degos disease
  • Aliases:
    • dark dot disease
    • reticular pigment anomaly of flexures
Homo sapiens (human)
DOID:0060257
  • dyschromatosis symmetrica hereditaria
  • Aliases:
    • reticulate acropigmentation of Dohi
Homo sapiens (human)
DOID:0060258
  • reticulate acropigmentation of Kitamura
  • Aliases:
    • RAPK
Homo sapiens (human)
DOID:0060259
  • renal-hepatic-pancreatic dysplasia
  • Aliases:
    • Ivemark's syndrome
Homo sapiens (human)
DOID:0060260
  • ptosis
  • Aliases:
    • blepharoptosis
    • drooping eyelid
Homo sapiens (human)
DOID:0060263
  • porencephaly
Homo sapiens (human)
DOID:0060264
  • pontocerebellar hypoplasia
  • Aliases:
    • PCH
Homo sapiens (human)
DOID:0060272
  • pontocerebellar hypoplasia type 3
Homo sapiens (human)
DOID:0060275
  • pontocerebellar hypoplasia type 6
Homo sapiens (human)
DOID:0060276
  • pontocerebellar hypoplasia type 7
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