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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4376 - 4400 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110374
  • retinitis pigmentosa 68
  • Aliases:
    • RP68
Homo sapiens (human)
DOID:0060356
  • Vici syndrome
  • Aliases:
    • immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
Homo sapiens (human)
DOID:0110441
  • dilated cardiomyopathy 2B
  • Aliases:
    • CMD2B
Homo sapiens (human)
DOID:2602
  • chondroma
  • Aliases:
    • central Chondroma
Homo sapiens (human)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
Homo sapiens (human)
DOID:0080548
  • Noonan syndrome with multiple lentigines 1
  • Aliases:
    • LEOPARD syndrome 1
Homo sapiens (human)
DOID:0060578
  • Noonan syndrome 1
  • Aliases:
    • NS1
Homo sapiens (human)
DOID:0110877
  • holoprosencephaly 11
  • Aliases:
    • HPE11
Mus musculus (house mouse)
DOID:0060108
  • brain glioma
  • Aliases:
    • lower grade glioma
Homo sapiens (human)
DOID:0081340
  • congenital myopathy 2C
Homo sapiens (human)
DOID:0110927
  • nemaline myopathy 3
  • Aliases:
    • NEM3
    • congenital myopathy 2A
    • nemaline myopathy 3, autosomal dominant or recessive
Homo sapiens (human)
DOID:0081339
  • congenital myopathy 2B
Homo sapiens (human)
DOID:0080384
  • nephrotic syndrome type 6
Homo sapiens (human)
DOID:0060773
  • cleft lip-palate-ectodermal dysplasia syndrome
  • Aliases:
    • CLPED1
    • Margarita type of ectodermal dysplasia
    • Zlotogora-Zilberman-Tenenbaum syndrome
    • cleft lip/palate-syndactyly-pili torti syndrome
    • syndactyly-ectodermal dysplasia-cleft/lip palate
Homo sapiens (human)
DOID:0080486
  • peroxisome biogenesis disorder 12A
  • Aliases:
    • peroxisome biogenesis disorder 12A (Zellweger)
Homo sapiens (human)
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Homo sapiens (human)
DOID:905
  • Zellweger syndrome
  • Aliases:
    • cerebrohepatorenal syndrome
    • congenital iron overload
Homo sapiens (human)
DOID:0110124
  • Bardet-Biedl syndrome 2
  • Aliases:
    • BBS2
Homo sapiens (human)
DOID:0110401
  • retinitis pigmentosa 74
  • Aliases:
    • RP74
Homo sapiens (human)
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:0070138
  • autosomal recessive cutis laxa type IIIB
  • Aliases:
    • ARCL3B
    • De Barsy syndrome B
Homo sapiens (human)
DOID:1283
  • enterocele
  • Aliases:
    • vaginal enterocele
Homo sapiens (human)
DOID:0110824
  • hereditary spastic paraplegia 9A
  • Aliases:
    • AD-SPG9A
    • Cataracts motor neuropathy-short stature-skeletal anomalies syndrome
    • SPG9A
    • autosomal dominant complex spastic paraplegia type 9A
    • autosomal dominant spastic paraplegia 9A
    • cataracts with motor neuronopathy, short stature and skeletal abnormalities
    • spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux
    • spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
Homo sapiens (human)
DOID:0070131
  • autosomal dominant cutis laxa 3
  • Aliases:
    • ADCL3
Homo sapiens (human)
DOID:0070143
  • autosomal recessive cutis laxa type III
  • Aliases:
    • De Barsy syndrome
    • cutis laxa-corneal clouding-intellectual disability syndrome
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: March 31, 2025