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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 **1576 - 1600** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080409	familial adenomatous polyposis 1 Aliases: adenocarcinoma in adenomatous polyposis coli	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	MUTYH	4595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080411	familial adenomatous polyposis 3	NTHL1	4913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080413	developmental and epileptic encephalopathy 18 Aliases: DEE18 early infantile epileptic encephalopathy 18	SZT2	23334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080415	developmental and epileptic encephalopathy 23 Aliases: DEE23 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome early infantile epileptic encephalopathy 23	DOCK7	85440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080416	developmental and epileptic encephalopathy 32 Aliases: DEE32 early infantile epileptic encephalopathy 32	KCNA2	3737	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080417	developmental and epileptic encephalopathy 38 Aliases: DEE38 early infantile epileptic encephalopathy 38	ARV1	850943	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080418	developmental and epileptic encephalopathy 54 Aliases: DEE54 early infantile epileptic encephalopathy 54	HNRNPU	3192	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080418	developmental and epileptic encephalopathy 54 Aliases: DEE54 early infantile epileptic encephalopathy 54	Hnrnpu	51810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080419	developmental and epileptic encephalopathy 50 Aliases: CDG syndrome type Iz CDG-Iz Carbohydrate deficient glycoprotein syndrome type Iz Congenital disorder of glycosylation type 1z DEE50 early infantile epileptic encephalopathy 50	CAD	790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080420	developmental and epileptic encephalopathy 62 Aliases: DEE62 early infantile epileptic encephalopathy 62	SCN3A	6328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080421	developmental and epileptic encephalopathy 11 Aliases: DEE11 early infantile epileptic encephalopathy 11	SCN2A	6326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	Scn1a	20265	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080428	developmental and epileptic encephalopathy 45 Aliases: DEE45 early infantile epileptic encephalopathy 45	GABRB1	2560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080429	developmental and epileptic encephalopathy 24 Aliases: DEE24 early infantile epileptic encephalopathy 24	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080430	developmental and epileptic encephalopathy 65 Aliases: DEE65 early infantile epileptic encephalopathy 65	CYFIP2	26999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	GABRA1	2554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080432	developmental and epileptic encephalopathy 60 Aliases: DEE60 early infantile epileptic encephalopathy 60	CNPY3	10695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH2	4191	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH1	853777	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080434	developmental and epileptic encephalopathy 61 Aliases: DEE61 early infantile epileptic encephalopathy 61	ADAM22	53616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080436	developmental and epileptic encephalopathy 4 Aliases: DEE4 early infantile epileptic encephalopathy 4	STXBP1	6812	Homo sapiens (human)	Alliance of Genome Resources

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