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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 **1426 - 1450** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0080940	hereditary angioedema type III	F12	2161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080941	acquired angioedema	F12 F2 F7 XPNPEP2	2147 2155 2161 7512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080943	46,XX sex reversal 5	NR2F2	7026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080944	familial Behcet-like autoinflammatory syndrome Aliases: A20 haploinsufficiency	TNFAIP3	7128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080946	retinal dystrophy with leukodystrophy Aliases: ACBD5 deficiency	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080952	AMED syndrome Aliases: AMEDS	ADH5	128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080953	amelogenesis imperfecta type 1J Aliases: Amelogenesis imperfecta, type IJ	ACP4	93650	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	SYNE1 VPS33B	23345 26276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080957	primary hypoalphalipoproteinemia 1 Aliases: familial HDL deficiency familial hypoalphalipoproteinemia	ABCA1	19	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080958	primary hypoalphalipoproteinemia 2 Aliases: Apolipoprotein A-I deficiency	APOA1	335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080959	arrhythmogenic right ventricular dysplasia 14	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080960	amelogenesis imperfecta type 2A6 Aliases: Amelogenesis imperfecta, hypomaturation type, IIA6	GPR68	8111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080962	anauxetic dysplasia 2	POP1	10940	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080975	intracranial berry aneurysm 12	THSD1	55901	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080977	aortic valve disease 3	ROBO4	54538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080978	arthrogryposis multiplex congenita-1	LGI4	163175	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080980	arthrogryposis multiplex congenita-4 Aliases: Zain syndrome	SCYL2	55681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080981	arthrogryposis multiplex congenita-5	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080984	X-linked intellectual developmental disorder 109 Aliases: Fragile XE syndrome fragile site on chromosome Xq28	AFF2	2334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	MED12	9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080986	Ehlers-Danlos syndrome periodontal type 1	C1R	715	Homo sapiens (human)	Alliance of Genome Resources

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