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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 12526 - 12550 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0110573
  • autosomal dominant nonsyndromic deafness 4A
  • Aliases:
    • DFNA4A
    • autosomal dominant deafness 4A
Homo sapiens (human)
DOID:0050700
  • cardiomyopathy
  • Aliases:
    • Cardiomyopathies
Drosophila melanogaster (fruit fly)
DOID:0070520
  • peeling skin syndrome 1
  • Aliases:
    • PSS1
    • generalized inflammatory peeling skin syndrome
    • inflammatory peeling skin syndrome
    • peeling skin syndrome type B
Homo sapiens (human)
DOID:0110699
  • hypotrichosis 2
  • Aliases:
    • Htss1
    • Hypt2
    • Spanish type hypotrichosis
    • hypotrichosis simplex of the scalp 1
Homo sapiens (human)
DOID:162
  • cancer
  • Aliases:
    • malignant neoplasm
    • malignant tumor
    • primary cancer
Saccharomyces cerevisiae S288C
DOID:0110877
  • holoprosencephaly 11
  • Aliases:
    • HPE11
Homo sapiens (human)
DOID:0080137
  • multiple endocrine neoplasia type 4
  • Aliases:
    • Multiple Endocrine Neoplasia, Type IV
Homo sapiens (human)
DOID:3125
  • multiple endocrine neoplasia
  • Aliases:
    • Multiple endocrine adenomatosis
    • Multiple endocrine neoplasia syndrome
Homo sapiens (human)
DOID:0050773
  • paraganglioma
  • Aliases:
    • chemodectoma
    • glomus body tumor
Homo sapiens (human)
DOID:0050771
  • pheochromocytoma
  • Aliases:
    • phaeochromocytoma
Homo sapiens (human)
DOID:0080467
  • developmental and epileptic encephalopathy 2
  • Aliases:
    • DEE2
    • EIEE2
    • X-linked infantile spasm syndrome 2
    • early infantile epileptic encephalopathy 2
Homo sapiens (human)
DOID:0112221
  • developmental and epileptic encephalopathy 87
  • Aliases:
    • DEE87
    • early infantile epileptic encephalopathy 87
Homo sapiens (human)
DOID:0050593
  • primary congenital glaucoma
Homo sapiens (human)
DOID:0070286
  • primary autosomal recessive microcephaly 3
  • Aliases:
    • MCPH3
Homo sapiens (human)
DOID:0112231
  • lissencephaly 7 with cerebellar hypoplasia
  • Aliases:
    • LIS7
Homo sapiens (human)
DOID:12098
  • trigeminal neuralgia
  • Aliases:
    • Trifacial neuralgia
    • trifocal neuralgia
Homo sapiens (human)
DOID:0112247
  • congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
  • Aliases:
    • CDK13-Related CHDFIDD
    • CDK13-Related Disorder
    • CHDFIDD
Homo sapiens (human)
DOID:0111021
  • cone-rod dystrophy 15
  • Aliases:
    • CORD15
Homo sapiens (human)
DOID:0050535
  • exudative vitreoretinopathy
  • Aliases:
    • FEVR
    • familial exudative vitreoretinopathy
Homo sapiens (human)
DOID:0110711
  • congenital hypotrichosis with juvenile macular dystrophy
  • Aliases:
    • Hjmd
    • hypotrichosis with cone-rod dystrophy
Homo sapiens (human)
DOID:0111649
  • ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
  • Aliases:
    • EEM syndrome
    • EEMS
    • ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
Homo sapiens (human)
DOID:0110467
  • autosomal recessive nonsyndromic deafness 12
  • Aliases:
    • DFNB12
    • autosomal recessive deafness 12
Homo sapiens (human)
DOID:0112008
  • pituitary adenoma 5
  • Aliases:
    • PITA5
    • pituitary adenoma 5, multiple types
Homo sapiens (human)
DOID:0110831
  • Usher syndrome type 1D
  • Aliases:
    • USH1D
    • Usher syndrome type ID
Homo sapiens (human)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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