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 4251 - 4275 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0112263
  • hypoinsulinemic hypoglycemia with hemihypertrophy
  • Aliases:
    • HIHGHH
    • hypoinsulinemic hypoglycemia and body hemihypertrophy
Homo sapiens (human)
DOID:0080563
  • congenital disorder of glycosylation Ik
  • Aliases:
    • congenital disorder of glycosylation 1k
Mus musculus (house mouse)
DOID:0080556
  • congenital disorder of glycosylation Id
  • Aliases:
    • congenital disorder of glycosylation 1d
Mus musculus (house mouse)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Mus musculus (house mouse)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Mus musculus (house mouse)
DOID:676
  • juvenile rheumatoid arthritis
  • Aliases:
    • Pauciarticular onset juvenile chronic arthritis
    • Still's disease
    • acute juvenile rheumatoid arthritis
    • juvenile chronic polyarthritis
    • juvenile idiopathic arthritis
    • monarticular juvenile rheumatoid arthritis
    • pauciarticular juvenile arthritis
    • systemic juvenile rheumatoid arthritis
Mus musculus (house mouse)
DOID:0110728
  • neuronal ceroid lipofuscinosis 5
  • Aliases:
    • CLN5
    • neuronal ceroid lipofuscinosis 5 variable age of onset
Mus musculus (house mouse)
DOID:0080537
  • hypermanganesemia with dystonia 2
Mus musculus (house mouse)
DOID:4624
  • Ollier disease
  • Aliases:
    • DYSCHONDROPLASIA
    • ENCHONDROMATOSIS, MULTIPLE
    • Enchondromatosis with haemangiomata
    • Kast's syndrome
    • OSTEOCHONDROMATOSIS
Homo sapiens (human)
DOID:3817
  • cranial nerve palsy
  • Aliases:
    • Cranial nerve Paralysis
Homo sapiens (human)
DOID:5656
  • cranial nerve disease
  • Aliases:
    • Cranial nerve disorder
    • disorder of cranial nerve
Homo sapiens (human)
DOID:0090015
  • Cenani-Lenz syndactyly syndrome
  • Aliases:
    • syndactyly type 7
Homo sapiens (human)
DOID:0060221
  • Maffucci syndrome
Homo sapiens (human)
DOID:0060847
  • Leri-Weill dyschondrosteosis
Homo sapiens (human)
DOID:2917
  • cryoglobulinemia
  • Aliases:
    • Cryoimmunoglobulinaemia
Homo sapiens (human)
DOID:2602
  • chondroma
  • Aliases:
    • central Chondroma
Homo sapiens (human)
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: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:0080508
  • Cornelia de Lange syndrome 4
  • Aliases:
    • CDLS4
    • Cornelia De Lange syndrome 4 with or without midline brain defects
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:11991
  • osteopoikilosis
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:0060563
  • Char syndrome
Mus musculus (house mouse)

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Last updated: August 19, 2024