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 4301 - 4325 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:4717
  • extragonadal germ cell cancer
  • Aliases:
    • extragonadal germ cell malignant tumor
    • neoplasm of Extragonadal germ cell
Homo sapiens (human)
DOID:0112303
  • spondylometaphyseal dysplasia with corneal dystrophy
  • Aliases:
    • SMDCD
Homo sapiens (human)
DOID:0080081
  • nonsyndromic congenital nail disorder 3
Homo sapiens (human)
DOID:0080382
  • nephrotic syndrome type 3
  • Aliases:
    • early onset nephrotic syndrome type 3
Homo sapiens (human)
DOID:0090064
  • familial cold autoinflammatory syndrome 3
Homo sapiens (human)
DOID:0070174
  • spermatogenic failure 17
  • Aliases:
    • Male infertility due to oocyte activation failure
    • SPGF17
Homo sapiens (human)
DOID:0080633
  • developmental cardiac valvular defect
Homo sapiens (human)
DOID:6367
  • acral lentiginous melanoma
  • Aliases:
    • acral lentiginous melanoma, malignant
    • malignant acral lentiginous melanoma
Homo sapiens (human)
DOID:5644
  • tricuspid valve prolapse
Homo sapiens (human)
DOID:9341
  • urethral diverticulum
Homo sapiens (human)
DOID:0080288
  • spinocerebellar ataxia 46
Homo sapiens (human)
DOID:11219
  • conjunctival folliculosis
  • Aliases:
    • acute follicular conjunctivitis
Homo sapiens (human)
DOID:13014
  • shipyard eye
  • Aliases:
    • EKC
    • Epidemic keratoconjunctivitis
Homo sapiens (human)
DOID:0090017
  • epidermolysis bullosa simplex with muscular dystrophy
  • Aliases:
    • epidermolysis bullosa simplex and limb-girdle muscular dystrophy
    • limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Homo sapiens (human)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Homo sapiens (human)
DOID:0060735
  • epidermolysis bullosa simplex Dowling-Meara type
  • Aliases:
    • EBS-gen sev
    • EBSDM
    • epidermolysis bullosa herpetiformis Dowling-Meara type
    • epidermolysis bullosa simplex, herpetiformis
    • generalized severe epidermolysis bullosa simplex
Homo sapiens (human)
DOID:0111181
  • familial hemiplegic migraine 1
  • Aliases:
    • FHM1
    • MHP1
    • familial hemiplegic migraine1 with progressive cerebellar ataxia
Homo sapiens (human)
DOID:0070192
  • autosomal recessive chronic granulomatous disease 1
  • Aliases:
    • CDG1
    • autosomal recessive chronic granulomatous disease cytochrome b-positive type I
    • chronic granulomatous disease due to deficiency of NCF-1
    • deficiency of NCF1
    • deficiency of SOC2
    • deficiency of neutrophil cytosol factor 1
    • deficiency of p47-PHOX
    • deficiency of soluble oxidase component II
Homo sapiens (human)
DOID:0111260
  • phosphoribosylpyrophosphate synthetase superactivity
  • Aliases:
    • PRPP synthetase superactivity
    • PRPS1 superactivity
Homo sapiens (human)
DOID:613
  • obsolete T lymphocyte deficiency
Homo sapiens (human)
DOID:11200
  • T cell deficiency
  • Aliases:
    • T cell immunodeficiency
    • T lymphocyte deficiency
    • T lymphocyte immunodeficiency
Homo sapiens (human)
DOID:5813
  • purine nucleoside phosphorylase deficiency
  • Aliases:
    • PNP deficiency
    • Purine-Nucleoside Phosphorylase deficiency
    • deficiency of inosine phosphorylase
Homo sapiens (human)
DOID:0060010
  • Omenn syndrome
  • Aliases:
    • combined immunodeficiency with hypereosinophilia
Homo sapiens (human)
DOID:525
  • central nervous system vasculitis
Homo sapiens (human)
DOID:2555
  • granulomatous angiitis
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: August 19, 2024