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 3226 - 3250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0080487
  • peroxisome biogenesis disorder 13A
  • Aliases:
    • peroxisome biogenesis disorder 13A (Zellweger)
Homo sapiens (human)
DOID:13096
  • Sneddon syndrome
  • Aliases:
    • Idiopathic livedo reticularis with systemic involvement
Homo sapiens (human)
DOID:0080418
  • developmental and epileptic encephalopathy 54
  • Aliases:
    • DEE54
    • early infantile epileptic encephalopathy 54
Mus musculus (house mouse)
DOID:0080197
  • congenital muscular dystrophy with cataracts and intellectual disability
Homo sapiens (human)
DOID:0111167
  • Dyggve-Melchior-Clausen disease
  • Aliases:
    • DMC disease
    • pseudo-Morquio disease type I
Homo sapiens (human)
DOID:0060247
  • Smith-McCort dysplasia
Homo sapiens (human)
DOID:0110350
  • osteogenesis imperfecta type 6
  • Aliases:
    • OI6
    • osteogenesis imperfecta type VI
Homo sapiens (human)
DOID:2450
  • central retinal vein occlusion
Homo sapiens (human)
DOID:9643
  • babesiosis
  • Aliases:
    • Babesiasis
    • Infection by babesia
    • piroplasmosis
Homo sapiens (human)
DOID:0050853
  • chronic venous insufficiency
Homo sapiens (human)
DOID:0060774
  • congenital diarrhea
Homo sapiens (human)
DOID:1214
  • tympanosclerosis
Homo sapiens (human)
DOID:0060887
  • ossification of the posterior longitudinal ligament of spine
  • Aliases:
    • OPLL
Homo sapiens (human)
DOID:0112115
  • combined oxidative phosphorylation deficiency 46
  • Aliases:
    • COXPD46
Homo sapiens (human)
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Homo sapiens (human)
DOID:0080716
  • infantile liver failure syndrome
Homo sapiens (human)
DOID:0111344
  • myeloproliferative disorder with eosinophilia
  • Aliases:
    • chronic myeloproliferative disorder with eosinophilia
Homo sapiens (human)
DOID:8946
  • severe nonproliferative diabetic retinopathy
  • Aliases:
    • High risk non proliferative diabetic retinopathy
    • Severe NPDR
Homo sapiens (human)
DOID:0060413
  • chromosome 22q11.2 deletion syndrome, distal
  • Aliases:
    • DiGeorge syndrome and Velocardiofacial syndrome
    • distal 22q11.2 microdeletion syndrome
Homo sapiens (human)
DOID:0110863
  • congenital stationary night blindness autosomal dominant 2
  • Aliases:
    • CSNBAD2
    • Rambusch type congenital stationary night blindness
Homo sapiens (human)
DOID:0110375
  • retinitis pigmentosa 40
  • Aliases:
    • RP40
Homo sapiens (human)
DOID:3840
  • craniopharyngioma
  • Aliases:
    • neoplasm of Rathke's Pouch
Homo sapiens (human)
DOID:4297
  • scimitar syndrome
  • Aliases:
    • Halasz syndrome
    • congenital venolobar syndrome
    • hypogenetic lung syndrome
    • mirror-image lung syndrome
    • pulmonary venolobar syndrome
    • total anomalous pulmonary venous return
    • vena cava bronchovascular syndrome
Homo sapiens (human)
DOID:4202
  • brain stem glioma
  • Aliases:
    • Brainstem Neuroglial tumor
Homo sapiens (human)
DOID:0060230
  • basal ganglia calcification
  • Aliases:
    • Fahr disease
Homo sapiens (human)

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Last updated: December 9, 2024