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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 3951 - 3975 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Homo sapiens (human)
DOID:0080677
  • otospondylomegaepiphyseal dysplasia, autosomal dominant
Homo sapiens (human)
DOID:0050961
  • spinocerebellar ataxia type 11
Homo sapiens (human)
DOID:0050983
  • spinocerebellar ataxia type 36
Homo sapiens (human)
DOID:640
  • encephalomyelitis
  • Aliases:
    • Encephalitis &/or myelitis
Homo sapiens (human)
DOID:1019
  • osteomyelitis
Homo sapiens (human)
DOID:3756
  • protein C deficiency
Homo sapiens (human)
DOID:0081242
  • autoimmune interstitial lung, joint, and kidney disease
  • Aliases:
    • Autoimmune interstitial lung disease-arthritis syndrome
    • COPA syndrome
Homo sapiens (human)
DOID:14451
  • hyperkalemic periodic paralysis
  • Aliases:
    • familial hyperkalemic periodic paralysis
Homo sapiens (human)
DOID:1919
  • Lesch-Nyhan syndrome
  • Aliases:
    • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
    • HG-PRT deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
    • Lesch - Nyhan syndrome
    • X-linked hyperuricemia
    • deficiency of IMP pyrophosphorylase
    • hypoxanthine guanine phosphoribosyltransferase deficiency
Homo sapiens (human)
DOID:0111584
  • dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
  • Aliases:
    • Malouf syndrome
    • Najjar syndrome
    • cardiogenital syndrome
    • cardiomyopathy eith primary testicular failure
    • congestive cardiomyopathy with hypergonadotropic hypogonadism
    • dilated cardiomyopathy with hypergonadotropic hypogonadism
    • dilated cardiomyopathy with premature ovarian failure
    • genital anomaly with cardiomyopathy
Homo sapiens (human)
DOID:0110839
  • Usher syndrome type 2C
  • Aliases:
    • USH2C
    • Usher syndrome IIC
    • Usher syndrome type IIC
Homo sapiens (human)
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Homo sapiens (human)
DOID:11823
  • hepatorenal syndrome
Homo sapiens (human)
DOID:2228
  • thrombocytosis
  • Aliases:
    • Thrombocythaemia
Homo sapiens (human)
DOID:0080908
  • Cockayne syndrome B
  • Aliases:
    • Cockayne syndrome 2
    • Cockayne syndrome type II
Homo sapiens (human)
DOID:0050790
  • fibular hypoplasia and complex brachydactyly
  • Aliases:
    • Du Pan syndrome
    • acromesomelic dysplasia-2B
Homo sapiens (human)
DOID:10159
  • osteonecrosis
  • Aliases:
    • Avascular necrosis of bone
    • aseptic necrosis
    • bone necrosis
Homo sapiens (human)
DOID:0090080
  • hypogonadotropic hypogonadism 16 with or without anosmia
Homo sapiens (human)
DOID:0060301
  • type I complement component 8 deficiency
Homo sapiens (human)
DOID:11996
  • spermatic cord torsion
  • Aliases:
    • Torsion of testicle
    • Torsion of testis
    • testicular Torsion
Homo sapiens (human)
DOID:0111677
  • familial benign fleck retina
  • Aliases:
    • FRFB
Homo sapiens (human)
DOID:0080438
  • developmental and epileptic encephalopathy 5
  • Aliases:
    • DEE5
    • early infantile epileptic encephalopathy 5
Homo sapiens (human)
DOID:0060710
  • autosomal recessive congenital ichthyosis 2
  • Aliases:
    • ARCI2
    • BROCQ congenital ichthyosiform erythroderma nonbullous form
    • NCIE1
    • nonbullous congenital ichthyosiform erythroderma 1
Homo sapiens (human)
DOID:0050451
  • Brugada syndrome
  • Aliases:
    • Bangungut
    • Brugada type idiopathic ventricular fibrillation
    • Dream disease
    • Pokkuri death syndrome
    • SUNDS
    • sudden unexplained nocturnal death syndrome
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: February 17, 2025