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 6076 - 6100 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Mus musculus (house mouse)
DOID:14702
  • branchiootorenal syndrome
  • Aliases:
    • Branchio-Oto-renal syndrome
    • Branchio-otorenal dysplasia
    • Melnick-Fraser syndrome
    • branchiootorenal dysplasia
Mus musculus (house mouse)
DOID:2908
  • Treacher Collins syndrome
  • Aliases:
    • Franceschetti syndrome
    • mandibulofacial dysostosis
Mus musculus (house mouse)
DOID:0110639
  • congenital muscular dystrophy due to integrin alpha-7 deficiency
  • Aliases:
    • congenital muscular dystrophy with ITGA7 deficiency
    • congenital muscular dystrophy with integrin alpha-7 deficiency
    • congenital myopathy due to integrin alpha-7 deficiency
Mus musculus (house mouse)
DOID:0080230
  • autosomal dominant intellectual developmental disorder 54
  • Aliases:
    • autosomal dominant mental retardation 54
Mus musculus (house mouse)
DOID:0080312
  • neurodevelopmental disorder with midbrain and hindbrain malformations
  • Aliases:
    • NEDMHM
Mus musculus (house mouse)
DOID:0050424
  • familial adenomatous polyposis
  • Aliases:
    • adenomatous polyposis of the colon
Mus musculus (house mouse)
DOID:0080980
  • arthrogryposis multiplex congenita-4
  • Aliases:
    • Zain syndrome
Mus musculus (house mouse)
DOID:0050802
  • Ehlers-Danlos syndrome spondylodysplastic type 2
  • Aliases:
    • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
    • Ehlers-Danlos syndrome progeroid type
Mus musculus (house mouse)
DOID:0080280
  • gingival fibromatosis 5
Mus musculus (house mouse)
DOID:0060316
  • orofaciodigital syndrome I
  • Aliases:
    • Papillon-Leage-Psaume syndrome
    • orofaciodigital syndrome 1
    • orofaciodigital syndrome type I
Mus musculus (house mouse)
DOID:0111506
  • palmoplantar keratoderma-esophageal carcinoma syndrome
  • Aliases:
    • Bennion-Patterson syndrome
    • Howell-Evans syndrome
    • TOC
    • keratosis palmaris et plantaris with esophageal cancer
    • keratosis palmoplantaris-esophageal carcinoma syndrome
    • palmoplantar hyperkeratosis-esophageal carcinoma syndrome
    • palmoplantar keratoderma with esophageal cancer
    • tylosis with esophageal cancer
    • tylosis-oesophageal carcinoma syndrome
Mus musculus (house mouse)
DOID:0080553
  • congenital disorder of glycosylation Iaa
  • Aliases:
    • congenital disorder of glycosylation 1aa
Mus musculus (house mouse)
DOID:11836
  • clubfoot
  • Aliases:
    • Congenital equinovarus
    • Equinovarus deformity of foot
    • congenital clubfoot
    • congenital talipes equinovarus
Mus musculus (house mouse)
DOID:0110372
  • retinitis pigmentosa 4
  • Aliases:
    • RP4
Mus musculus (house mouse)
DOID:14502
  • cholesterol ester storage disease
  • Aliases:
    • CESD
    • partial LAL deficiency
    • partial LIPA deficiency
    • partial cholesterol ester hydrolase deficiency
    • partial lysosomal acid lipase deficiency
Mus musculus (house mouse)
DOID:0050693
  • Brooke-Spiegler syndrome
  • Aliases:
    • BRSS
    • BSS
    • CYLD cutaneous syndrome
    • SBS
    • Spiegler-Brooke Syndrome
Mus musculus (house mouse)
DOID:0111296
  • generalized epilepsy with febrile seizures plus 10
  • Aliases:
    • GEFS+10
    • GEFSP10
    • generalised epilepsy with febrile seizures plus 10
    • generalised epilepsy with febrile seizures plus type 10
    • generalized epilepsy with febrile seizures plus type 10
Mus musculus (house mouse)
DOID:234
  • colon adenocarcinoma
  • Aliases:
    • Colonic adenocarcinoma
    • adenocarcinoma of colon
Mus musculus (house mouse)
DOID:670
  • amphetamine abuse
Mus musculus (house mouse)
DOID:0060789
  • hypomyelinating leukodystrophy 4
  • Aliases:
    • HLD4
    • MitCHAP60 disease
    • Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
    • mitochondrial HSP60 chaperonopathy
Mus musculus (house mouse)
DOID:1858
  • McCune Albright syndrome
  • Aliases:
    • fibrous dysplasia of bone
    • osteitis fibrosa disseminata
    • polyostotic fibrous dysplasia
Mus musculus (house mouse)
DOID:0060851
  • pemphigus vulgaris
  • Aliases:
    • familial pemphigus vulgaris
Mus musculus (house mouse)
DOID:0090048
  • dystonia 16
Mus musculus (house mouse)
DOID:0081074
  • Teebi hypertelorism syndrome 2
Mus musculus (house mouse)

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Last updated: December 9, 2024