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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3026 - 3050** of **4115** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0070066	autosomal dominant intellectual developmental disorder 36 Aliases: MRD36 autosomal dominant mental retardation 36 autosomal dominant non-syndromic intellectual disability 36	PPP2R1A	5518	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070065	autosomal dominant intellectual developmental disorder 35 Aliases: MRD35 autosomal dominant mental retardation 35 autosomal dominant non-syndromic intellectual disability 35	PPP2R5D	5528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070063	autosomal dominant intellectual developmental disorder 33 Aliases: MRD33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability 33	DPP6	1804	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070033	autosomal dominant intellectual developmental disorder 3 Aliases: MRD3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability 3	CDH15	1013	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070059	autosomal dominant intellectual developmental disorder 29 Aliases: MRD29 autosomal dominant mental retardation 29 autosomal dominant non-syndromic intellectual disability 29	SETBP1	26040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070056	autosomal dominant intellectual developmental disorder 26 Aliases: MRD26 autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26	AUTS2	26053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070053	autosomal dominant intellectual developmental disorder 23 Aliases: MRD23 autosomal dominant mental retardation 23 autosomal dominant non-syndromic intellectual disability 23	SETD5	55209	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070051	autosomal dominant intellectual developmental disorder 21 Aliases: MRD21 autosomal dominant mental retardation 21 autosomal dominant non-syndromic intellectual disability 21	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070043	autosomal dominant intellectual developmental disorder 13 Aliases: MRD13 autosomal dominant mental retardation 13 autosomal dominant non-syndromic intellectual disability 13 mental retardation, autosomal dominant 13, with neuronal migration defects	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070041	autosomal dominant intellectual developmental disorder 11 Aliases: MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11	EPB41L1	2036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	CACNG2	10369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070031	autosomal dominant intellectual developmental disorder 1 Aliases: MRD1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability 1	MBD5	55777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050948	autosomal dominant hypophosphatemic rickets	FGF23	8074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111269	autosomal dominant hyaline body myopathy Aliases: MSMA Myopathy, myosin storage, autosomal dominant congenital myopathy 7A myopathy with lysis of type I myofibrils	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070023	autosomal dominant dyskeratosis congenita 6 Aliases: DKCA6	ACD	65057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070016	autosomal dominant dyskeratosis congenita 2 Aliases: DKCA2	TERT	7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9 Aliases: DHMN9 HMN9 distal hereditary motor neuronopathy type 9 distal hereditary motor neuropathy type IX	WARS1	7453	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	SLC5A7	60482	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6 Aliases: HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance	FBXO38	81545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3 Aliases: HMN IIB HMN2B distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB	HSPB1	3315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	HSPB8	26353	Homo sapiens (human)	Alliance of Genome Resources

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