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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4276 - 4300 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0050524
  • maturity-onset diabetes of the young
  • Aliases:
    • MODY
    • Mason-type diabetes
Homo sapiens (human)
DOID:0050439
  • Usher syndrome
Homo sapiens (human)
DOID:0060602
  • alpha-methylacyl-CoA racemase deficiency
  • Aliases:
    • AMACR deficiency
Homo sapiens (human)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Homo sapiens (human)
DOID:9246
  • cerebral amyloid angiopathy
  • Aliases:
    • Cerebral Hemorrhage, Hereditary, with Amyloidosis
    • Hereditary Cerebral Hemorrhage with Amyloidosis
Homo sapiens (human)
DOID:0081345
  • congenital myopathy 10B
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:11664
  • nephrosclerosis
  • Aliases:
    • renal sclerosis
Homo sapiens (human)
DOID:2226
  • myeloproliferative neoplasm
  • Aliases:
    • CMPD
    • CMPD, U
    • chronic myeloproliferative disease
Homo sapiens (human)
DOID:0080634
  • nanophthalmos
Homo sapiens (human)
DOID:3753
  • Hermansky-Pudlak syndrome
Homo sapiens (human)
DOID:14400
  • capillary leak syndrome
Homo sapiens (human)
DOID:0110026
  • age related macular degeneration 14
  • Aliases:
    • ARMD14
Homo sapiens (human)
DOID:0111261
  • fumarase deficiency
  • Aliases:
    • FMRD
    • fumaric aciduria
Homo sapiens (human)
DOID:9744
  • type 1 diabetes mellitus
  • Aliases:
    • IDDM
    • insulin-dependent diabetes mellitus
    • type I diabetes mellitus
Homo sapiens (human)
DOID:0110626
  • primary ciliary dyskinesia 2
  • Aliases:
    • CILD2
    • primary ciliary dyskinesia 2 with or without situs inversus
Homo sapiens (human)
DOID:13543
  • hyperparathyroidism
Homo sapiens (human)
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Homo sapiens (human)
DOID:0080432
  • developmental and epileptic encephalopathy 60
  • Aliases:
    • DEE60
    • early infantile epileptic encephalopathy 60
Homo sapiens (human)
DOID:0060241
  • 3-M syndrome
  • Aliases:
    • Le Merrer syndrome
    • Miller-McKusick-Malvaux syndrome
    • Yakut short stature syndrome
    • dolichospondylic dysplasia
    • gloomy face syndrome
    • three M syndrome
Homo sapiens (human)
DOID:1919
  • Lesch-Nyhan syndrome
  • Aliases:
    • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
    • HG-PRT deficiency
    • HPRT1 deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
    • Lesch - Nyhan syndrome
    • X-linked hyperuricemia
    • deficiency of IMP pyrophosphorylase
    • hypoxanthine guanine phosphoribosyltransferase deficiency
Homo sapiens (human)
DOID:445
  • Bartter disease
  • Aliases:
    • Aldosteronism with hyperplasia of the adrenal cortex
    • Bartter's syndrome
Homo sapiens (human)
DOID:0112145
  • retinitis pigmentosa 88
  • Aliases:
    • RP88
Homo sapiens (human)
DOID:0080943
  • 46,XX sex reversal 5
Homo sapiens (human)
DOID:0070218
  • familial hyperinsulinemic hypoglycemia 2
  • Aliases:
    • Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
    • HHF2
    • hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
Homo sapiens (human)
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Last updated: March 31, 2025