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 2301 - 2325 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0111005
  • cone-rod dystrophy 2
  • Aliases:
    • CORD2
    • CRD2
    • RCRD2
    • cone-rod retinal dystrophy 2
    • retinal cone-rod dystrophy 2
Homo sapiens (human)
DOID:0060229
  • Baraitser-Winter syndrome
Homo sapiens (human)
DOID:14365
  • systemic primary carnitine deficiency disease
  • Aliases:
    • carnitine transporter deficiency
    • carnitine uptake defect
    • deficiency of plasma-membrane carnitine transporter
    • primary carnitine deficiency
    • renal carnitine transport defect
Homo sapiens (human)
DOID:13620
  • patent foramen ovale
  • Aliases:
    • Atrial septal defect within oval fossa
    • Defect, Patent or persistent, ostium secundum
    • Ostium secundum type atrial septal defect
    • Persistent ostium secundum
    • foramen ovale patent
Homo sapiens (human)
DOID:4479
  • pseudohypoaldosteronism
Homo sapiens (human)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Homo sapiens (human)
DOID:0110469
  • autosomal recessive nonsyndromic deafness 14
  • Aliases:
    • DFNB14
    • autosomal recessive deafness 14
Homo sapiens (human)
DOID:3206
  • plexiform schwannoma
  • Aliases:
    • Plexiform Neurinoma
    • Plexiform neurilemmoma
Homo sapiens (human)
DOID:0111341
  • primary failure of tooth eruption
  • Aliases:
    • PFE
    • dental noneruption
    • familial posterior openbite malocclusion
    • nonsyndromic primary failure of eruption
    • primary retention of teeth
    • unerupted second primary molar
Homo sapiens (human)
DOID:5408
  • Paget's disease of bone
  • Aliases:
    • Paget disease of bone
    • Paget's bone disease
    • osseous Paget's disease
    • osteitis deformans
Homo sapiens (human)
DOID:9007
  • sudden infant death syndrome
  • Aliases:
    • Cot death
    • Crib death
    • SIDS
    • Sudden death of nonspecific cause in infancy
Homo sapiens (human)
DOID:3883
  • Lynch syndrome
  • Aliases:
    • COCA 1
    • HNPCC - hereditary nonpolyposis colon cancer
    • Hereditary Defective Mismatch Repair syndrome
    • Hereditary non-polyposis colon cancer
    • Hereditary non-polyposis colon cancer syndrome
    • Hereditary non-polyposis colorectal cancer
    • Hereditary non-polyposis colorectal cancer syndrome
    • Hereditary nonpolyposis colon cancer
    • Hereditary nonpolyposis colon cancer syndrome
    • Hereditary nonpolyposis colorectal cancer syndrome
    • hereditary nonpolyposis colorectal cancer
    • hereditary nonpolyposis colorectal neoplasm
Homo sapiens (human)
DOID:12603
  • acute leukemia
  • Aliases:
    • Stem cell Leukemia
    • Stem cell leukaemia
Homo sapiens (human)
DOID:13034
  • relapsing fever
Homo sapiens (human)
DOID:3463
  • breast disease
Homo sapiens (human)
DOID:9263
  • homocystinuria
  • Aliases:
    • CBS deficiency
    • cystathionine beta synthase deficiency
    • cystathionine synthase deficiency
Homo sapiens (human)
DOID:0070247
  • autosomal dominant Emery-Dreifuss muscular dystrophy 2
  • Aliases:
    • EDMD2
    • EMD2
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
    • Emery-Dreifuss muscular dystrophy, autosomal dominant
    • Hauptmann-Thannhauser muscular dystrophy
    • autosomal dominant limb-girdle muscular dystrophy type 1B
    • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
    • scapuloilioperoneal atrophy with cardiopathy
Homo sapiens (human)
DOID:0111351
  • D-2-hydroxyglutaric aciduria 1
  • Aliases:
    • D2HGA1
Homo sapiens (human)
DOID:0050635
  • alternating hemiplegia of childhood
  • Aliases:
    • AHC
Homo sapiens (human)
DOID:5223
  • infertility
Homo sapiens (human)
DOID:0060306
  • Meier-Gorlin syndrome
  • Aliases:
    • ear-patella-short stature syndrome
Homo sapiens (human)
DOID:8478
  • actinomycosis
  • Aliases:
    • Actinomycotic madura foot
    • Actinomycotic mycetema
    • Actinomycotic mycetoma of foot
    • Madura foot due to Actinomadura
    • actinomycotic infection
Homo sapiens (human)
DOID:0110340
  • osteogenesis imperfecta type 4
  • Aliases:
    • OI4
    • osteogenesis imperfecta type IV
    • osteogenesis imperfecta with normal sclera
Homo sapiens (human)
DOID:9953
  • acute biphenotypic leukemia
  • Aliases:
    • mixed phenotype acute leukemia
Homo sapiens (human)
DOID:5557
  • testicular germ cell cancer
  • Aliases:
    • germ cell tumor of testis
Homo sapiens (human)

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Last updated: August 19, 2024