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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 **751 - 775** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070045	Coffin-Siris syndrome 3 Aliases: CSS3 MRD15 autosomal dominant mental retardation 15	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070046	Coffin-Siris syndrome 4 Aliases: CSS4 MRD16 autosomal dominant mental retardation 16	SMARCA4	6597	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070047	Schuurs-Hoeijmakers Syndrome Aliases: MRD17 SHMS autosomal dominant mental retardation 17	PACS1	55690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070048	GAND syndrome Aliases: MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18	GATAD2B	57459	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:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	MEF2C	4208	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: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:0070054	Vulto-van Silfout-de Vries syndrome Aliases: IDDISBAS MRD24 VSVS autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability 24 intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures	DEAF1	10522	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070055	Xia-Gibbs Syndrome Aliases: MRD25 autosomal dominant mental retardation 25	AHDC1	27245	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:0070058	Helsmoortel-Van Der Aa Syndrome Aliases: HVDAS MRD28 autosomal dominant mental retardation 28	ADNP	23394	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:0070062	Arboleda-Tham syndrome Aliases: ARTHS MRD32 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome autosomal dominant mental retardation 32 autosomal dominant non-syndromic intellectual disability 32	KAT6A	7994	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: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: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:0070067	White-Sutton syndrome Aliases: MRD37 WHSUS autosomal dominant mental retardation 37	POGZ	23126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	EEF1A2	1917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070070	autosomal dominant intellectual developmental disorder 40 Aliases: MRD40 autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability 40	CHAMP1	283489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070072	autosomal dominant intellectual developmental disorder 42 Aliases: MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42	GNB1	2782	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070073	autosomal dominant intellectual developmental disorder 43 Aliases: MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43	HIVEP2	3097	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070074	autosomal dominant intellectual developmental disorder 44 Aliases: MRD44 autosomal dominant intellectual developmental disorder 44 with microcephaly autosomal dominant mental retardation 44 autosomal dominant non-syndromic intellectual disability 44	TRIO	7204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070082	schizophrenia 6 Aliases: SCZD6	NRG1	3084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	SLC1A1	6505	Homo sapiens (human)	Alliance of Genome Resources

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