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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6801 - 6825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:9432	renal glycosuria Aliases: renal diabetes	DCXR SLC2A2 SLC5A1 SLC5A2	51181 6514 6523 6524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:963	episodic ataxia Aliases: Isaacs syndrome	PDHA1 PIGP PIGQ	51227 5160 9091	Homo sapiens (human)	DisGeNET
DOID:4022	ureterocele	PIGP PIGQ	51227 9091	Homo sapiens (human)	DisGeNET
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090021	split hand-foot malformation 1 Aliases: SHFD1 SHFM1	CLEC1B PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG QTRT1 UGT8	51266 5130 5290 5291 5293 5294 7368 81890	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050959	spinocerebellar ataxia type 8	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:4193	intracranial thrombosis Aliases: cerebral thrombosis	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:8590	acute vascular insufficiency of intestine Aliases: acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. acute intestinal Ischemia acute intestinal vascular insufficiency	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	PRKAG2	51422	Homo sapiens (human)	Alliance of Genome Resources
DOID:1701	steroid inherited metabolic disorder	HSD17B7	51478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	PIGT	51604	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:743	dermatographia Aliases: dermatographic urticaria dermographism	PIGT	51604	Homo sapiens (human)	DisGeNET
DOID:0111910	spermatogenic failure Aliases: SPGF	PDHA2	5161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070188	spermatogenic failure 1 Aliases: SPGF1 oligochiasmatic infertility oligosynaptic infertility	PDHA2	5161	Homo sapiens (human)	DisGeNET
DOID:227	ankylosis	ENPP1 PLCB4	5167 5332	Homo sapiens (human)	DisGeNET
DOID:1214	tympanosclerosis	CAT ENPP1 TLR4	5167 7099 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2073	perinatal intestinal perforation	ENPP1	5167	Homo sapiens (human)	DisGeNET
DOID:12733	hypercementosis Aliases: Cementation hyperplasia	ENPP1	5167	Homo sapiens (human)	DisGeNET
DOID:4138	bile duct disease Aliases: bile duct disorder disorder of bile duct	ENPP1	5167	Homo sapiens (human)	DisGeNET

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