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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 **10051 - 10075** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Aliases: CAKUTHED	SON	6651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Aliases: CAKUTHED	Son	20658	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090118	congenital amegakaryocytic thrombocytopenia Aliases: CAMT congenital amegakaryocytic thrombocytopenic purpura	MPL	4352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090118	congenital amegakaryocytic thrombocytopenia Aliases: CAMT congenital amegakaryocytic thrombocytopenic purpura	Mpl	17480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	FGA FGB FGG	2243 2244 2266	Homo sapiens (human)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	Fga Fgb Fgg	110135 14161 99571	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	Y43C5A.2	177911	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	Fgb Fgg	24366 24367	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	Por Ren1	18984 19701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POR REN	1583 1584 1585 1586 1589 5447 5972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	asp-1	180251	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	Ren	24715	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	Crb1	170788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	eys	557044	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	CRB1 EYS	23418 346007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	crb eys	3771890 42896	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111020	cone-rod dystrophy 9 Aliases: CORD9	ADAM9	8754	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111020	cone-rod dystrophy 9 Aliases: CORD9	Adam9	11502	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111020	cone-rod dystrophy 9 Aliases: CORD9	adm-2	181489	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	Gucy2e	14919	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	Gucy2d	79222	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111010	cone-rod dystrophy 5 Aliases: CORD5	PITPNM3	83394	Homo sapiens (human)	Alliance of Genome Resources

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