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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 **9201 - 9225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:980	choroidal sclerosis Aliases: Choroidal degenerations	GUCY2D PRPH2	3000 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	GUCY2C	2984	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111872	nonphotosensitive trichothiodystrophy 6 Aliases: TTD6	GTF2E2	2961	Homo sapiens (human)	Alliance of Genome Resources
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	GTB1 VPS1	851807 853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	GTB1 ROT2	851807 852530	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	GSY1 GSY2	850569 850962	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	GSY1 GSY2 NPP1 NPP2	850391 850569 850962 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050451	Brugada syndrome Aliases: Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome	GSTM2	2946	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050637	Finnish type amyloidosis Aliases: AGel amyloidosis AMYLOIDOSIS, MERETOJA TYPE Lattice corneal dystrophy type II gelsolin amyloidosis	GSN	2934	Homo sapiens (human)	Alliance of Genome Resources
DOID:9159	gas gangrene Aliases: Gas bacillus infection	GSN	2934	Homo sapiens (human)	Alliance of Genome Resources
DOID:8481	rheumatic myocarditis Aliases: Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis	GSN ICAM1 SELE VCAM1	2934 3383 6401 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	GRN	2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	GRN TARDBP	23435 2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	GRM6	2916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080286	spinocerebellar ataxia 44	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080062	autosomal recessive spinocerebellar ataxia 13 Aliases: SCAR13	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110713	Oguchi disease-2 Aliases: CSNBO2 congenital stationary night blindness Oguchi type 2	GRK1	6011	Homo sapiens (human)	Alliance of Genome Resources
DOID:8499	night blindness Aliases: nyctalopia	GRK1 NYX RDH5 RHO RLBP1	5959 6010 6011 6017 60506	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111406	Fraser syndrome 3 Aliases: FRASRS3	GRIP1	23426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080456	developmental and epileptic encephalopathy 46 Aliases: DEE46 early infantile epileptic encephalopathy 46	GRIN2D	2906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070036	autosomal dominant intellectual developmental disorder 6 Aliases: MRD6 autosomal dominant mental retardation 6 autosomal dominant non-syndromic intellectual disability 6	GRIN2B	2904	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080444	developmental and epileptic encephalopathy 27 Aliases: DEE27 early infantile epileptic encephalopathy 27	GRIN2B	2904	Homo sapiens (human)	Alliance of Genome Resources
DOID:4377	egg allergy Aliases: Allergy to eggs	GRIN2B IL13	2904 3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070387	developmental and epileptic encephalopathy 101 Aliases: DEE101 early infantile epileptic encephalopathy 101	GRIN1	2902	Homo sapiens (human)	Alliance of Genome Resources

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