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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 **3976 - 4000** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
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	HADH	3033	Homo sapiens (human)
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	GCK	2645	Homo sapiens (human)
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Gck	24385	Rattus norvegicus (Norway rat)
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Gck	103988	Mus musculus (house mouse)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	83535	Rattus norvegicus (Norway rat)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	CEL EHHADH GCK HADH HAO1 HAO2 KCNJ11 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3767 4351 51179 5236 5373 54363 8050	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	Kcnj11	16514	Mus musculus (house mouse)
DOID:0070219	familial hyperinsulinemic hypoglycemia 1 Aliases: HHF1	CEL EHHADH GCK HADH HAO1 HAO2 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 4351 51179 5236 5373 54363 8050	Homo sapiens (human)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	GUT1	856353	Saccharomyces cerevisiae S288C
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ABO ACE ACSS2 ADH1A ADPRH ALOX5 ANXA5 BAAT CH25H COG2 COL9A2 CYP7A1 EPHX2 EXT1 EXT2 GK GLB1 HSPG2 ICAM1 LCAT LIPA LIPC LIPG LPL OLR1 PLA2G15 PLA2G7 PRKCSH RBP4 SDC2 SELE SIGLEC7 TNFRSF10C	124 1298 141 1581 1636 2053 2131 2132 22796 23659 240 27036 2710 2720 28 308 3339 3383 3931 3988 3990 4023 4973 5589 55902 570 5950 6383 6401 7941 8794 9023 9388	Homo sapiens (human)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	R11F4.1	173747	Caenorhabditis elegans
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	Gk Rbp4	25703 79223	Rattus norvegicus (Norway rat)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	Gk Rbp4	14933 19662	Mus musculus (house mouse)
DOID:0110921	familial hemophagocytic lymphohistiocytosis 1 Aliases: FHL1 HLH1 HPLH1	SMUG1	23583	Homo sapiens (human)
DOID:0060178	familial hemiplegic migraine	Atp1a2 Atp1a3	232975 98660	Mus musculus (house mouse)
DOID:0060178	familial hemiplegic migraine	Atp1a2	24212	Rattus norvegicus (Norway rat)
DOID:0060178	familial hemiplegic migraine	ATP1A2 DPEP1 PMM2 PRKCSH	1800 477 5373 5589	Homo sapiens (human)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	Atp1a2	98660	Mus musculus (house mouse)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	Atp1a2	24212	Rattus norvegicus (Norway rat)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2 DPEP1	1800 477	Homo sapiens (human)
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	PMM2 PRKCSH	5373 5589	Homo sapiens (human)
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	GPM1	853705	Saccharomyces cerevisiae S288C
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	Bpgm	12183	Mus musculus (house mouse)

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