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 2101 - 2125 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0110591
  • autosomal dominant nonsyndromic deafness 7
  • Aliases:
    • DFNA7
    • autosomal dominant deafness 7
Homo sapiens (human)
DOID:0110059
  • X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
  • Aliases:
    • AIH3
    • amelogenesis imperfecta type IE X-linked 2
    • amelogenesis imperfecta 3 hypoplastic type
Homo sapiens (human)
DOID:3847
  • papillary craniopharyngioma
  • Aliases:
    • Papillary Rathke's Pouch tumor
    • craniopharyngioma, papillary
Homo sapiens (human)
DOID:0110493
  • autosomal recessive nonsyndromic deafness 35
  • Aliases:
    • DFNB35
    • autosomal recessive deafness 35
Homo sapiens (human)
DOID:0112377
  • muscular dystrophy-dystroglycanopathy type B14
  • Aliases:
    • MDDGB14
    • congenital muscular dystrophy GMPPB-related
Homo sapiens (human)
DOID:0080324
  • tuberous sclerosis 1
Homo sapiens (human)
DOID:0111052
  • Scott syndrome
  • Aliases:
    • BDPLT7
    • SCTS
    • bleeding abnormality due to deficiency of platelet biding of factor X
    • familial prothrombin consumption inhibitor
    • familial prothrombin conversion defect
    • platelet-type bleeding disorder 7
    • prothrombin consumption deficiency
Homo sapiens (human)
DOID:9220
  • central sleep apnea
  • Aliases:
    • primary central sleep apnea
Homo sapiens (human)
DOID:3457
  • invasive lobular carcinoma
  • Aliases:
    • Lobular carcinoma
    • Lobular carcinoma of breast
    • Lobular carcinoma of the breast
Homo sapiens (human)
DOID:1762
  • cheilitis
Homo sapiens (human)
DOID:14669
  • acrodysostosis
Homo sapiens (human)
DOID:3069
  • malignant astrocytoma
  • Aliases:
    • Astrocytic tumor
    • astrocytoma of Cerebrum
    • astrocytoma of brain
    • astroglioma
    • cerebral astrocytoma
Homo sapiens (human)
DOID:0110173
  • Charcot-Marie-Tooth disease axonal type 2U
  • Aliases:
    • CMT2U
    • Charcot-Marie-Tooth neuropathy type 2U
    • autosomal dominant Charcot-Marie-Tooth disease type 2U
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
Homo sapiens (human)
DOID:0060294
  • cold-induced sweating syndrome
  • Aliases:
    • Crisponi syndrome
    • Sohar-Crisponi syndrome
Homo sapiens (human)
DOID:7008
  • protoplasmic astrocytoma
  • Aliases:
    • Protoplasmic Astrocytic tumor
Homo sapiens (human)
DOID:0050661
  • vitelliform macular dystrophy
  • Aliases:
    • Best disease
    • Best macular dystrophy
    • juvenile-onset vitelliform macular dystrophy
Homo sapiens (human)
DOID:0060745
  • Doyne honeycomb retinal dystrophy
  • Aliases:
    • DHRD
    • Doyne honeycomb degeneration of retina
Homo sapiens (human)
DOID:1067
  • open-angle glaucoma
  • Aliases:
    • Wide-angle glaucoma
    • glaucoma simplex
    • open angle glaucoma
    • pigmentary glaucoma
Homo sapiens (human)
DOID:14791
  • Leber congenital amaurosis
  • Aliases:
    • LCA
    • Leber's amaurosis
    • Leber's congenital amaurosis
    • Leber's disease
Homo sapiens (human)
DOID:0110769
  • hereditary spastic paraplegia 16
  • Aliases:
    • SPG16
    • X-linked spastic paraplegia 16
    • X-linked spastic paraplegia type 16
Homo sapiens (human)
DOID:0070112
  • Niemann-Pick disease type B
Homo sapiens (human)
DOID:11123
  • Henoch-Schoenlein purpura
  • Aliases:
    • Allergic purpura
    • Autoimmune purpura
    • Henoch-Sch?nlein purpura
    • Henoch-Sch@nlein purpura
    • Henoch-Scholein purpura
    • Henoch-Schonlein Purpura
    • Purpura, autoimmune
Homo sapiens (human)
DOID:0111087
  • Fanconi anemia complementation group C
  • Aliases:
    • FA3
    • FACC
    • FANCC
    • Fanconi pancytopenia type 3
Homo sapiens (human)
DOID:1350
  • paranasal sinus benign neoplasm
  • Aliases:
    • neoplasm of accessory sinus
    • tumor of Accessory sinus
Homo sapiens (human)
DOID:11503
  • diabetic autonomic neuropathy
Homo sapiens (human)

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Last updated: August 19, 2024