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 3076 - 3100 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:14415
  • Legg-Calve-Perthes disease
  • Aliases:
    • Calve - Perthes' disease
    • Coxa plana
    • Juvenile osteochond-hip/pelvis
    • Juvenile osteochondrosis of hip and/or pelvis
    • Perthe's disease
    • Perthes disease
    • juvenile osteochondrosis of hip and pelvis
    • osteochondrosis of Legg-Calve-Perthes
    • pseudocoxalgia
Homo sapiens (human)
DOID:4890
  • juvenile myoclonic epilepsy
Homo sapiens (human)
DOID:4998
  • trichorhinophalangeal syndrome type II
  • Aliases:
    • Langer-Giedion syndrome
    • Trichorhinophalangeal dysplasia type II
    • trichorhinophalangeal syndrome type 2
Homo sapiens (human)
DOID:0080508
  • Cornelia de Lange syndrome 4
  • Aliases:
    • CDLS4
    • Cornelia De Lange syndrome 4 with or without midline brain defects
Homo sapiens (human)
DOID:11991
  • osteopoikilosis
Homo sapiens (human)
DOID:9063
  • Ritter's disease
  • Aliases:
    • Dermatitis exfoliativa neonatorum
    • Pemphigus neonatorum
    • Ritter disease
    • Scalded skin syndrome
    • Staphylococcal scalded skin syndrome
    • Toxic epidermal necrolysis, subcorneal type
Homo sapiens (human)
DOID:0060285
  • parietal foramina
  • Aliases:
    • Caitlin marks
    • enlarged parietal foramina
    • hereditary cranium bifidum
Homo sapiens (human)
DOID:4157
  • secondary syphilis
  • Aliases:
    • secondary syphilis of viscera or bone
Homo sapiens (human)
DOID:452
  • pleomorphic adenoma
  • Aliases:
    • mixed tumor of the Salivary gland
Homo sapiens (human)
DOID:0112050
  • non-syndromic X-linked intellectual disability 63
  • Aliases:
    • ACSL4-related intellectual disability
    • MRX63
    • MRX68
    • X-linked mental retardation 63
    • X-linked mental retardation 68
Homo sapiens (human)
DOID:0060175
  • succinic semialdehyde dehydrogenase deficiency
  • Aliases:
    • 4-hydroxybutyric aciduria
    • SSADH
    • gamma-hydroxybutyric aciduria
Homo sapiens (human)
DOID:0110860
  • polycystic kidney disease 3
  • Aliases:
    • Apkd3
    • Pkd3
    • Polycystic Kidney Disease, Adult, Type III
Homo sapiens (human)
DOID:0050431
  • arrhythmogenic right ventricular cardiomyopathy
  • Aliases:
    • ARVC
    • ARVC cardiomyopathy
    • ARVD
    • arrhythmogenic right ventricular dysplasia
    • arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • right ventricular ACM
Homo sapiens (human)
DOID:2174
  • ocular cancer
  • Aliases:
    • Ocular tumor
    • eye neoplasm
    • malignant eye neoplasm
    • neoplasm of eye
    • neoplasm of eye proper
Homo sapiens (human)
DOID:297
  • pleomorphic adenoma carcinoma
  • Aliases:
    • carcinoma ex pleomorphic adenoma
    • carcinoma in pleomorphic adenoma
Homo sapiens (human)
DOID:0050638
  • transthyretin amyloidosis
  • Aliases:
    • ATTR amyloidosis
    • ATTRm amyloidosis
    • Amyloidosis, hereditary, transthyretin-related
    • Corino de Andrade's disease
    • Familial transthyretin amyloidosis
    • TTR amyloidosis
    • familial amyloid polyneuropathy
    • paramyloidosis
    • transthyretin-related hereditary amyloidosis
Homo sapiens (human)
DOID:0070115
  • Meckel syndrome 1
  • Aliases:
    • MKS1
    • Meckel-Gruber syndrome, type 1
Homo sapiens (human)
DOID:0060840
  • isolated microphthalmia 1
  • Aliases:
    • MCOP1
Homo sapiens (human)
DOID:0060842
  • isolated microphthalmia 3
  • Aliases:
    • MCOP3
Homo sapiens (human)
DOID:0060839
  • isolated microphthalmia 2
  • Aliases:
    • MCOP2
Homo sapiens (human)
DOID:0060835
  • isolated microphthalmia 6
  • Aliases:
    • MCOP6
    • posterior nonsyndromic microphthalmia
Homo sapiens (human)
DOID:0060838
  • isolated microphthalmia 7
  • Aliases:
    • MCOP7
Homo sapiens (human)
DOID:0060841
  • isolated microphthalmia 8
  • Aliases:
    • MCOP8
Homo sapiens (human)
DOID:0060836
  • isolated microphthalmia 4
  • Aliases:
    • MCOP4
Homo sapiens (human)
DOID:2383
  • neonatal jaundice
  • Aliases:
    • neonatal hyperbilirubinemia
    • neonatal icterus
Homo sapiens (human)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024