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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 851 - 875 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0070274
  • hereditary nonpolyposis colorectal cancer type 2
  • Aliases:
    • COCA2
    • FCC2
    • HNPCC2
    • familial nonpolyposis colon cancer type 2
Homo sapiens (human)
DOID:0070277
  • primary autosomal recessive microcephaly 15
  • Aliases:
    • MCPH15
    • NEDMISBA
    • neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
Homo sapiens (human)
DOID:0070279
  • primary autosomal recessive microcephaly 14
  • Aliases:
    • MCPH14
Homo sapiens (human)
DOID:0070280
  • primary autosomal recessive microcephaly 5
  • Aliases:
    • MCPH5
Homo sapiens (human)
DOID:0070281
  • primary autosomal recessive microcephaly 19
  • Aliases:
    • MCPH19
Homo sapiens (human)
DOID:0070282
  • primary autosomal recessive microcephaly 8
  • Aliases:
    • MCPH8
Homo sapiens (human)
DOID:0070283
  • primary autosomal recessive microcephaly 13
  • Aliases:
    • MCPH13
Homo sapiens (human)
DOID:0070286
  • primary autosomal recessive microcephaly 3
  • Aliases:
    • MCPH3
Homo sapiens (human)
DOID:0070287
  • primary autosomal recessive microcephaly 11
  • Aliases:
    • MCPH11
Homo sapiens (human)
DOID:0070288
  • primary autosomal recessive microcephaly 17
  • Aliases:
    • MCPH17
Homo sapiens (human)
DOID:0070291
  • primary autosomal recessive microcephaly 4
  • Aliases:
    • MCPH4
Homo sapiens (human)
DOID:0070292
  • primary autosomal recessive microcephaly 9
  • Aliases:
    • MCPH9
Homo sapiens (human)
DOID:0070293
  • primary autosomal recessive microcephaly 2 with or without cortical malformations
  • Aliases:
    • MCPH2
Homo sapiens (human)
DOID:0070294
  • primary autosomal recessive microcephaly 10
  • Aliases:
    • MCPH10
Homo sapiens (human)
DOID:0070295
  • primary autosomal dominant microcephaly 18
  • Aliases:
    • MCPH18
Homo sapiens (human)
DOID:0070296
  • primary autosomal recessive microcephaly
  • Aliases:
    • MCPH
Homo sapiens (human)
DOID:0070297
  • primary microcephaly
  • Aliases:
    • true microcephaly
Homo sapiens (human)
DOID:0070298
  • multiple epiphyseal dysplasia 2
  • Aliases:
    • EDM2
Homo sapiens (human)
DOID:0070299
  • multiple epiphyseal dysplasia 5
  • Aliases:
    • BHMED
    • EDM5
    • bilateral hereditary microepiphyseal dysplasia
    • multiple epiphyseal dysplasia MATN3-related
Homo sapiens (human)
DOID:0070301
  • multiple epiphyseal dysplasia 6
  • Aliases:
    • EDM6
Homo sapiens (human)
DOID:0070302
  • multiple epiphyseal dysplasia 7
  • Aliases:
    • EDM7
Homo sapiens (human)
DOID:0070303
  • multiple epiphyseal dysplasia 1
  • Aliases:
    • EDM1
    • MED1
    • multiple epiphyseal dysplasia COMP-related
    • polyepiphyseal dysplasia type 1
Homo sapiens (human)
DOID:0070304
  • multiple epiphyseal dysplasia 3
  • Aliases:
    • EDM3
    • multiple epiphyseal dysplasia 3 with or without myopathy
Homo sapiens (human)
DOID:0070307
  • craniolenticulosutural dysplasia
  • Aliases:
    • Boyadjiev-Jabs Syndrome
    • cranio-lenticulo-sutural dysplasia, CLSD
Homo sapiens (human)
DOID:0070309
  • absence epilepsy
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