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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3926 - 3950** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Mutyh	170841	Rattus norvegicus (Norway rat)
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Axn	43565	Drosophila melanogaster (fruit fly)
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	CNTN2	6900	Homo sapiens (human)
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	LPL	4023	Homo sapiens (human)
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	LPL	4023	Homo sapiens (human)
DOID:0050650	familial atrial fibrillation Aliases: ATFB	KCNQ1	3784	Homo sapiens (human)
DOID:0050650	familial atrial fibrillation Aliases: ATFB	Kcnq1	84020	Rattus norvegicus (Norway rat)
DOID:0050650	familial atrial fibrillation Aliases: ATFB	Kcnq1	16535	Mus musculus (house mouse)
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)
DOID:0090062	familial cold autoinflammatory syndrome 1	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)
DOID:0090065	familial cold autoinflammatory syndrome 4	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:0090061	familial cold autoinflammatory syndrome Aliases: FCAS	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ACE ALPL CHIT1 CYP7A1 LCAT LIPC LPL LYPLA2 PNPLA2 SCD SELP SIGLEC7	1118 11313 1581 1636 249 27036 3931 3990 4023 57104 6319 6403	Homo sapiens (human)
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)
DOID:0060474	familial erythrocytosis 2 Aliases: Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia ECYT2 autosomal recessive benign erythrocytosis	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	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	Bpgm	12183	Mus musculus (house mouse)
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	669	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:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	PMM2 PRKCSH	5373 5589	Homo sapiens (human)
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	98660	Mus musculus (house mouse)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2 DPEP1	1800 477	Homo sapiens (human)
DOID:0060178	familial hemiplegic migraine	Atp1a2	24212	Rattus norvegicus (Norway rat)
DOID:0060178	familial hemiplegic migraine	Atp1a2 Atp1a3	232975 98660	Mus musculus (house mouse)

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