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 1651 - 1675 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:12858
  • Huntington's disease
  • Aliases:
    • HD
    • Huntington disease
    • Huntington's chorea
Homo sapiens (human)
DOID:0110564
  • autosomal dominant nonsyndromic deafness 3A
  • Aliases:
    • DFNA3A
    • autosomal dominant deafness 3A
Homo sapiens (human)
DOID:8110
  • periampullary adenocarcinoma
Homo sapiens (human)
DOID:0110632
  • megaconial type congenital muscular dystrophy
  • Aliases:
    • congenital megaconial myopathy
    • congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
    • congenital muscular dystrophy with mitochondrial structural abnormalities
    • megaconial congenital muscular dystrophy
Homo sapiens (human)
DOID:9955
  • hypoplastic left heart syndrome
Homo sapiens (human)
DOID:3030
  • mucinous adenocarcinoma
  • Aliases:
    • Mucin-Secreting adenocarcinoma
    • Mucin-Secreting carcinoma
    • Mucous carcinoma
    • Pseudomyxoma peritonei with unknown primary site
    • mucin-producing adenocarcinoma
Homo sapiens (human)
DOID:0112127
  • HRPT-related hyperuricemia
  • Aliases:
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Kelley-Seegmiller syndrome
    • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • hypoxanthine guanine phosphoribosyltransferase partial deficiency
Homo sapiens (human)
DOID:11432
  • endometriosis of ovary
  • Aliases:
    • ovarian endometriosis
Homo sapiens (human)
DOID:8553
  • pyoderma gangrenosum
Homo sapiens (human)
DOID:0110060
  • amelogenesis imperfecta hypomaturation type 2A2
  • Aliases:
    • AI2A2
    • amelogenesis imperfecta hypomaturation type IIA2
    • amelogenesis imperfecta pigmented hypomaturation type 2
    • amelogenesis imperfecta type IIA2
Homo sapiens (human)
DOID:0111133
  • focal segmental glomerulosclerosis 8
  • Aliases:
    • FSGS8
Homo sapiens (human)
DOID:0110756
  • type 1 diabetes mellitus 19
  • Aliases:
    • IDDM19
    • Insulin-Dependent Diabetes Mellitus 19
Homo sapiens (human)
DOID:0060263
  • porencephaly
Homo sapiens (human)
DOID:4291
  • fibroepithelial basal cell carcinoma
  • Aliases:
    • Fibroepithelioma of Pinkus
    • Fibroepithelioma of Pinkus type
    • Pinkus tumor
Homo sapiens (human)
DOID:0060282
  • persistent hyperplastic primary vitreous
Homo sapiens (human)
DOID:0111414
  • trichohepatoenteric syndrome
  • Aliases:
    • SD/THE
    • Syndromic diarrhea/Tricho-hepato-enteric syndrome
    • THES
    • Tricho-hepato-enteric syndrome
    • phenotypic diarrhea
    • syndromic diarrhea
Homo sapiens (human)
DOID:0111272
  • occipital horn syndrome
  • Aliases:
    • EDS IX
    • Ehlers-Danlos syndrome type 9
    • Ehlers-Danlos syndrome type IX
    • X-linked cutis laxa
Homo sapiens (human)
DOID:13515
  • tuberous sclerosis
  • Aliases:
    • Bourneville's disease
    • Epiloia
    • Tuberose sclerosis
    • Tuberous sclerosis syndrome
    • cerebral sclerosis
Homo sapiens (human)
DOID:0081337
  • congenital myopathy
Homo sapiens (human)
DOID:635
  • acquired immunodeficiency syndrome
  • Aliases:
    • AIDS
    • acquired Immune deficiency
Homo sapiens (human)
DOID:5199
  • ureteral obstruction
Homo sapiens (human)
DOID:0111046
  • platelet-type bleeding disorder 10
  • Aliases:
    • BDPLT10
    • CD36 deficiency
    • platelet glycoprotein IV deficiency
Homo sapiens (human)
DOID:3450
  • cutaneous Paget's disease
  • Aliases:
    • Paget's disease of skin
    • cutaneous Paget disease
    • extramammary Paget's disease
Homo sapiens (human)
DOID:10211
  • cholelithiasis
Homo sapiens (human)
DOID:480
  • movement disease
Homo sapiens (human)

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Last updated: August 19, 2024