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 4851 - 4875 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:6432
  • pulmonary hypertension
Mus musculus (house mouse)
DOID:0111206
  • autosomal dominant distal hereditary motor neuronopathy 2
  • Aliases:
    • HMN II
    • HMN IIA
    • HMN2
    • HMN2A
    • autosomal dominant adult spinal muscular atrophy IIA
    • distal hereditary motor neuronopathy type 2
    • distal hereditary motor neuronopathy type 2A
    • distal hereditary motor neuropathy type II
    • distal hereditary motor neuropathy type IIA
    • spinal Charcot-Marie-Tooth disease IIA
Homo sapiens (human)
DOID:0060556
  • Kufor-Rakeb syndrome
  • Aliases:
    • autosomal recessive Parkinson disease 9
    • autosomal recessive juvenile onset Parkinson disease 9
Homo sapiens (human)
DOID:3981
  • pantothenate kinase-associated neurodegeneration
  • Aliases:
    • Hallervorden-Spatz disease
    • Hallervorden-Spatz syndrome
    • NBIA1
    • Pigmentary pallidal degeneration
    • brain Iron Accumulation type I syndrome
    • neurodegeneration with brain iron accumulation 1
Homo sapiens (human)
DOID:0110737
  • neurodegeneration with brain iron accumulation 3
  • Aliases:
    • Adult basal ganglia disease
    • Ferritin-related neurodegeneration
    • Hereditary ferritinopathy
    • NBIA3
    • Neuroferritinopathy
    • Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
Homo sapiens (human)
DOID:0110736
  • neurodegeneration with brain iron accumulation 2b
  • Aliases:
    • NBIA2b
    • Neuroaxonal Dystrophy, Atypical
    • Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Homo sapiens (human)
DOID:0110738
  • neurodegeneration with brain iron accumulation 4
  • Aliases:
    • MPAN
    • Mitochondrial Protein-Associated Neurodegeneration
    • NBIA due to C19orf12 mutation
    • NBIA4
    • Neurodegeneration with brain iron accumulation due to C19orf12 mutation
    • Neurodegeneration with brain iron accumulation type 4
Homo sapiens (human)
DOID:0110740
  • neurodegeneration with brain iron accumulation 6
  • Aliases:
    • CoPAN
    • NBIA6
    • Neurodegeneration with brain iron accumulation due to COASY mutation
Homo sapiens (human)
DOID:14753
  • isovaleric acidemia
  • Aliases:
    • Isovaleryl-CoA dehydrogenase deficiency
    • isovaleric acid CoA dehydrogenase deficiency
    • isovaleric aciduria
Homo sapiens (human)
DOID:2367
  • neuroaxonal dystrophy
Homo sapiens (human)
DOID:0110735
  • neurodegeneration with brain iron accumulation 2a
  • Aliases:
    • INAD1
    • Infantile Neuroaxonal Dystrophy 1
    • NBIA2a
    • Neurodegeneration, Pla2g6-Associated
    • Seitelberger Disease
Homo sapiens (human)
DOID:0050879
  • fragile X-associated tremor/ataxia syndrome
  • Aliases:
    • FXTAS syndrome
Homo sapiens (human)
DOID:0050955
  • spinocerebellar ataxia type 2
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Homo sapiens (human)
DOID:0060191
  • gastroduodenal Crohn's disease
  • Aliases:
    • upper GI Crohn's disease
Homo sapiens (human)
DOID:0060188
  • jejunoileitis
Homo sapiens (human)
DOID:2565
  • macular corneal dystrophy
  • Aliases:
    • Fehr corneal dystrophy
    • MACULAR DYSTROPHY, CORNEAL, 1
Homo sapiens (human)
DOID:12704
  • ataxia telangiectasia
  • Aliases:
    • Boder-Sedgwick syndrome
    • Louis Bar syndrome
Homo sapiens (human)
DOID:0110739
  • neurodegeneration with brain iron accumulation 5
  • Aliases:
    • BPAN
    • Beta-Propeller Protein-Associated Neurodegeneration
    • NBIA5
    • SENDA
    • Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Homo sapiens (human)
DOID:0080356
  • IgG4-related disease
Homo sapiens (human)
DOID:679
  • basal ganglia disease
Homo sapiens (human)
DOID:13767
  • clonorchiasis
  • Aliases:
    • Oriental liver fluke disease
Homo sapiens (human)
DOID:480
  • movement disease
Homo sapiens (human)
DOID:3385
  • bacterial vaginosis
Homo sapiens (human)
DOID:3901
  • vulvitis
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