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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 **4326 - 4350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:3049	Churg-Strauss syndrome Aliases: Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis	GDNF GFRA1 IL5 STAT3 VTN	2668 2674 3567 6774 7448	Homo sapiens (human)	Alliance of Genome Resources
DOID:2602	chondroma Aliases: central Chondroma	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111434	optic atrophy 10 Aliases: OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures	RTN4IP1	84816	Homo sapiens (human)	Alliance of Genome Resources
DOID:3305	teratocarcinoma Aliases: mixed Embryonal carcinoma and teratoma	AFP	174	Homo sapiens (human)	Alliance of Genome Resources
DOID:13365	reading disorder	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:4896	bile duct adenocarcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	MFRP MYRF NOG	745 83552 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3783	Coffin-Lowry syndrome	RPS6KA1 RPS6KA3	6195 6197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070205	familial partial lipodystrophy type 4 Aliases: FPLD4 PLIN1-related FPLD PLIN1-related familial partial lipodystrophy familial partial lipodystrophy associated with PLIN1 mutations	PLIN1	5346	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	KCNA10 KCNA1 KCNA2 KCNA3 KCNA4 KCNA7	3736 3737 3738 3739 3743 3744	Homo sapiens (human)	Alliance of Genome Resources
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	NBN	4683	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	NECAP1	25977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	CHRND	1144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	KRT5 POFUT1 POGLUT1	23509 3852 56983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110461	X-linked dilated cardiomyopathy Aliases: CMD3B DMD-related dilated cardiomyopathy	DMD	1756	Homo sapiens (human)	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	ABAT TRPV1	18 7442	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive Aliases: SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070478	diphthamide deficiency syndrome 2 Aliases: DEDSSH2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110222	Brugada syndrome 5 Aliases: BRGDA5	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	VIPAS39 VPS33B	26276 63894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	UBA1	7317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111381	IVIC syndrome Aliases: Instituto Venezolano de Investigaciones Cientificas syndrome OORS Oculootoradial syndrome oculo-oto-radial syndrome radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources

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