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 1101 - 1125 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0111196
  • X-linked distal spinal muscular atrophy 3
  • Aliases:
    • ATP7A-related distal motor neuropathy
    • DSMAX
    • SMAX3
    • X-linked dHMN3
    • X-linked dSMA3
    • X-linked distal hereditary motor neuropathy type 3
    • X-linked recessive distal spinal muscular atrophy
Homo sapiens (human)
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Homo sapiens (human)
DOID:1838
  • Menkes disease
  • Aliases:
    • COPPER TRANSPORT DISEASE
    • Menkes kinky-hair syndrome
    • steely hair syndrome
Homo sapiens (human)
DOID:0090057
  • X-linked dystonia-parkinsonism
Homo sapiens (human)
DOID:0112275
  • developmental and epileptic encephalopathy 93
  • Aliases:
    • DEE93
    • IECEE3
    • infantile or early childhood epileptic encephalopathy 3
Homo sapiens (human)
DOID:12397
  • entropion
Homo sapiens (human)
DOID:14449
  • mixed gonadal dysgenesis
Homo sapiens (human)
DOID:3301
  • gonadoblastoma
Homo sapiens (human)
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Homo sapiens (human)
DOID:3978
  • extrinsic cardiomyopathy
Homo sapiens (human)
DOID:0080197
  • congenital muscular dystrophy with cataracts and intellectual disability
Homo sapiens (human)
DOID:3125
  • multiple endocrine neoplasia
  • Aliases:
    • Multiple endocrine adenomatosis
    • Multiple endocrine neoplasia syndrome
Homo sapiens (human)
DOID:0060774
  • congenital diarrhea
Homo sapiens (human)
DOID:3660
  • wheat allergy
  • Aliases:
    • allergy to wheat
    • wheat allergic reaction
Homo sapiens (human)
DOID:0050958
  • spinocerebellar ataxia type 7
Homo sapiens (human)
DOID:3540
  • choroid plexus cancer
  • Aliases:
    • tumor of choroid plexus
    • tumor of the Choroid Plexus
Homo sapiens (human)
DOID:12733
  • hypercementosis
  • Aliases:
    • Cementation hyperplasia
Homo sapiens (human)
DOID:2073
  • perinatal intestinal perforation
Homo sapiens (human)
DOID:0111530
  • linear nevus sebaceous syndrome
  • Aliases:
    • JNP
    • Jadassohn nevus phakomatosis
    • SFM syndrome
    • Schimmelpenning Feuerstein Mims syndrome
    • Schimmelpenning syndrome
    • Solomon syndrome
    • nevus sebaceus of Jadassohn
    • nevus sebaceus syndrome
    • organoid nevus phakomatosis
    • organoid nevus syndrome
Homo sapiens (human)
DOID:4138
  • bile duct disease
  • Aliases:
    • bile duct disorder
    • disorder of bile duct
Homo sapiens (human)
DOID:1214
  • tympanosclerosis
Homo sapiens (human)
DOID:227
  • ankylosis
Homo sapiens (human)
DOID:0070188
  • spermatogenic failure 1
  • Aliases:
    • SPGF1
    • oligochiasmatic infertility
    • oligosynaptic infertility
Homo sapiens (human)
DOID:0111910
  • spermatogenic failure
  • Aliases:
    • SPGF
Homo sapiens (human)
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Homo sapiens (human)

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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