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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 **5251 - 5275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	55636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	kis	33185	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090085	hypogonadotropic hypogonadism 9 with or without anosmia	NSMF	26012	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	Fgf8	14179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	FGF8	2253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	fgf8b	65089	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	Fshb	25447	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	FSHB	2488	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	Fshb	14308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090091	hypogonadotropic hypogonadism 23 with or without anosmia Aliases: 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency	LHB	3972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090091	hypogonadotropic hypogonadism 23 with or without anosmia Aliases: 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency	Lhb	25329	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	Prokr2	246313	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	PROKR2	128674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	Prokr2	192649	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	Flrt3	71436	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	flrt3	100144692	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	flrt3.S	394225	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	FLRT3	23767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	Flrt3	366205	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090094	hypogonadotropic hypogonadism 1 with or without anosmia Aliases: dysplasia olfactogenitalis of de morsier	ANOS1	3730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	Prkag2 Prkag3	108099 241113	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090102	autosomal dominant macrothrombocytopenia TUBB1-related	TUBB1	81027	Homo sapiens (human)	Alliance of Genome Resources

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