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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 **8901 - 8925** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0080418	developmental and epileptic encephalopathy 54 Aliases: DEE54 early infantile epileptic encephalopathy 54	hrpu-1	178421	Caenorhabditis elegans	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:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	SYNJ1	8867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	INP53	854276	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	Synj1	85238	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080455	developmental and epileptic encephalopathy 52 Aliases: DEE52 early infantile epileptic encephalopathy 52	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080455	developmental and epileptic encephalopathy 52 Aliases: DEE52 early infantile epileptic encephalopathy 52	Scn1b	20266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080455	developmental and epileptic encephalopathy 52 Aliases: DEE52 early infantile epileptic encephalopathy 52	Scn1b	29686	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	Mdh2	17448	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	Mdh2	81829	Rattus norvegicus (Norway rat)	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 MDH2	853777 853994	Saccharomyces cerevisiae S288C	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	69719	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:0080438	developmental and epileptic encephalopathy 5 Aliases: DEE5 early infantile epileptic encephalopathy 5	SPTAN1	6709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080441	developmental and epileptic encephalopathy 49 Aliases: DEE49 early infantile epileptic encephalopathy 49	DENND5A	23258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	AP3B2	8120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	APL6	853177	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	Ap3b2	11775	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080425	developmental and epileptic encephalopathy 47 Aliases: DEE47 early infantile epileptic encephalopathy 47	Fgf10 Fgf16 Fgf5 Fgf6 Fgf7	14165 14176 14177 14178 80903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080425	developmental and epileptic encephalopathy 47 Aliases: DEE47 early infantile epileptic encephalopathy 47	FGF10 FGF16 FGF3 FGF5 FGF6 FGF7	2248 2250 2251 2252 2255 8823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080425	developmental and epileptic encephalopathy 47 Aliases: DEE47 early infantile epileptic encephalopathy 47	Fgf10 Fgf16 Fgf5 Fgf7	25443 29348 60464 60662	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080456	developmental and epileptic encephalopathy 46 Aliases: DEE46 early infantile epileptic encephalopathy 46	Grin2d	14814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080456	developmental and epileptic encephalopathy 46 Aliases: DEE46 early infantile epileptic encephalopathy 46	GRIN2D	2906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080456	developmental and epileptic encephalopathy 46 Aliases: DEE46 early infantile epileptic encephalopathy 46	Grin2d	24412	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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