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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 **1351 - 1375** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0080728	Ehlers-Danlos syndrome arthrochalasia type 2	COL1A2	1278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080730	Ehlers-Danlos syndrome cardiac valvular type	COL1A2	1278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080732	Ehlers-Danlos syndrome classic-like 2	AEBP1	165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	ADAMTS2	9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2	FKBP14	55033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	DSE	29940	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080743	transverse myelitis	AQP4 IL6	3569 361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080745	polymyositis	CCR2 CX3CL1 ELN HGF IFNG IL4 MMP9 PMS1 ROBO1 SLIT2 STAT4 TNFRSF1A TNFRSF1B	2006 3082 3458 3565 4318 5378 6091 6376 6775 7132 7133 729230 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080746	Sweet syndrome Aliases: Acute Febrile Neutrophilic Dermatosis Sweet's syndrome	MEFV MMP2 MMP9	4210 4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080750	erythema nodosum	C3 CFB HLA-B LTA TNF	3106 4049 629 7124 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080751	keratosis pilaris atrophicans	LRP1	4035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080753	keratosis follicularis spinulosa decalvans	GNPNAT1	64841	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080754	X-linked keratosis follicularis spinulosa decalvans	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080758	Fanconi renotubular syndrome 2	SLC34A1	6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080759	Fanconi renotubular syndrome 3	EHHADH	1962	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080763	diffuse gastric cancer	MAP3K1	4214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080764	hereditary diffuse gastric cancer	CDH1	999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080766	erythrokeratodermia variabilis et progressiva 6	TRPM4	54795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080770	autosomal dominant beta thalassemia Aliases: inclusion body beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080771	beta-thalassemia major Aliases: Cooley's anemia	PON1	5444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080773	delta beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080776	partial androgen insensitivity syndrome Aliases: Reifenstein syndrome	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080784	urinary tract infection Aliases: UTI	CXCR1 HSPA1B IL1A LCN2 TLR2 TLR4	3304 3552 3577 3934 7097 7099	Homo sapiens (human)	Alliance of Genome Resources

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