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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 **3651 - 3675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:8927	learning disability Aliases: Academic skill disorder learning disorder	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	CACNA1A CACNA1B CHRM1	1128 773 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112025	female-restricted syndromic X-linked intellectual disability 99 Aliases: MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability female-restricted syndromic X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:11450	allergic cutaneous vasculitis Aliases: Allergic Cutaneous Angiitis Autoimmune Hypersensitivity angiitis	CSF3	1440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110386	retinitis pigmentosa 42 Aliases: RP42	KLHL7	55975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080540	galactosialidosis	CTSA	5476	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly Aliases: Majewski syndrome SRPS2A SRTD6 polydactyly with neonatal chondrodystrophy, type II short rib-polydactyly syndrome type IIA	NEK1	4750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080384	nephrotic syndrome type 6	PTPRO	5800	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	COL17A1 ITGB4 LAMA3 LAMB3 LAMC2	1308 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:7596	asbestos-related lung carcinoma	ADAM28 RARB	10863 5915	Homo sapiens (human)	Alliance of Genome Resources
DOID:5593	gastric papillary adenocarcinoma Aliases: Papillary adenocarcinoma of stomach	GLI1 SMO	2735 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	CDH5 CTNNB1 FZD4 LRP5	1003 1499 4041 8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis Aliases: NSIAD	AVPR2	554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080062	autosomal recessive spinocerebellar ataxia 13 Aliases: SCAR13	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	HEXB	3074	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050956	spinocerebellar ataxia type 6	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	PTGS2	5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SNCA	6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:11720	distal myopathy Aliases: distal muscular dystrophy	LDB3 MYH15 MYH1 MYH7	11155 22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:11212	hydrophthalmos	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FANCD2	2177	Homo sapiens (human)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	RET	5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	CIITA	4261	Homo sapiens (human)	Alliance of Genome Resources

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