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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2426 - 2450 of 4649 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:0080620
  • familial glucocorticoid deficiency
Homo sapiens (human)
DOID:0111181
  • familial hemiplegic migraine 1
  • Aliases:
    • FHM1
    • MHP1
    • familial hemiplegic migraine1 with progressive cerebellar ataxia
Homo sapiens (human)
DOID:0111182
  • familial hemiplegic migraine 2
  • Aliases:
    • FHM2
    • Familial hemiplegic migraine-2
    • MHP2
Homo sapiens (human)
DOID:0111183
  • familial hemiplegic migraine 3
  • Aliases:
    • FHM3
    • MHP3
Homo sapiens (human)
DOID:0060178
  • familial hemiplegic migraine
Homo sapiens (human)
DOID:0110922
  • familial hemophagocytic lymphohistiocytosis 2
  • Aliases:
    • FHL2
    • HLH2
    • HPLH2
Homo sapiens (human)
DOID:0110923
  • familial hemophagocytic lymphohistiocytosis 3
  • Aliases:
    • FHL3
    • HLH3
    • HPLH3
Homo sapiens (human)
DOID:0110925
  • familial hemophagocytic lymphohistiocytosis 5
  • Aliases:
    • FHL5
    • HLH5
    • HPLH5
Homo sapiens (human)
DOID:0111366
  • familial hepatic adenoma
  • Aliases:
    • familial liver cell adenomas
Homo sapiens (human)
DOID:13810
  • familial hypercholesterolemia
  • Aliases:
    • Fredrickson type IIa hyperlipoproteinemia
    • Fredrickson type IIa lipidaemia
    • familial hyperbetalipoproteinaemia
    • familial hypercholesteremia
    • hyperbetalipoproteinemia
    • type II hyperlipidemia
Homo sapiens (human)
DOID:0070219
  • familial hyperinsulinemic hypoglycemia 1
  • Aliases:
    • HHF1
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)
DOID:0070216
  • familial hyperinsulinemic hypoglycemia 3
  • Aliases:
    • HHF3
    • hyperinsulinemic hypoglycemia due to glucokinase deficiency
    • hyperinsulinism due to glucokinase deficiency
Homo sapiens (human)
DOID:0070215
  • familial hyperinsulinemic hypoglycemia 4
  • Aliases:
    • HHF4
    • hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
    • hyperinsulinism due to SCHAD deficiency
    • hyperinsulinism due to glutamodehydrogenase deficiency
    • hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Homo sapiens (human)
DOID:0070220
  • familial hyperinsulinemic hypoglycemia 5
  • Aliases:
    • HHF5
    • hyperinsulinemic hypoglycemia due to INSR deficiency
    • hyperinsulinemic hypoglycemia due to insulin receptor deficiency
    • hyperinsulinism due to INSR deficiency
Homo sapiens (human)
DOID:0070217
  • familial hyperinsulinemic hypoglycemia 6
  • Aliases:
    • HHF6
    • HI/HA syndrome
    • hyperinsulinism-hyperammonemia syndrome
Homo sapiens (human)
DOID:0081328
  • familial hyperinsulinemic hypoglycemia 8
Homo sapiens (human)
DOID:1168
  • familial hyperlipidemia
  • Aliases:
    • familial hyperlipoproteinemia
    • hyperlipemia
Homo sapiens (human)
DOID:0080326
  • familial hypertrophic cardiomyopathy
Homo sapiens (human)
DOID:0111062
  • familial hypobetalipoproteinemia 1
  • Aliases:
    • FHBL1
Homo sapiens (human)
DOID:0111061
  • familial hypobetalipoproteinemia 2
  • Aliases:
    • FHBL2
    • combined familial hypolipidemia
Homo sapiens (human)
DOID:0060700
  • familial hypocalciuric hypercalcemia 1
  • Aliases:
    • FHH type 1
    • HHC1
    • familial benign hypercalcemia 1
    • familial hypocalciuric hypercalcemia type I
    • hypocalciuric hypercalcemia type I
Homo sapiens (human)
DOID:0111566
  • familial isolated trichomegaly
  • Aliases:
    • TCMGLY
    • long eyelashes
Homo sapiens (human)
DOID:0060062
  • familial juvenile hyperuricemic nephropathy
Homo sapiens (human)
DOID:0111422
  • familial lipase maturation factor 1 deficiency
  • Aliases:
    • LPL and HL deficiency
    • LPL and HTGL deficiency
    • combined lipase deficiency
    • familial LMF1 deficiency
    • lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025