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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 **6751 - 6775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
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: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:409	liver disease Aliases: disorder of liver hepatic disorder	GTB1 VPS1	851807 853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111872	nonphotosensitive trichothiodystrophy 6 Aliases: TTD6	GTF2E2	2961	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:980	choroidal sclerosis Aliases: Choroidal degenerations	GUCY2D PRPH2	3000 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome Aliases: Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome	GUP1	852796	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB	2990	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	GUT1 PRB1 RRT12	850412 856353 856649	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	GUT1	856353	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	GYG1 GYS2 PFKL PFKM PFKP PHKA1 PHKA2 PHKG2 PRKAG2 PYGL SLC2A2	2992 2998 51422 5211 5213 5214 5255 5256 5261 5836 6514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)	Alliance of Genome Resources
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	Gaa	14387	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	Gaa	367562	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110484	autosomal recessive nonsyndromic deafness 26 Aliases: DFNB26 autosomal recessive deafness 26	Gab1	14388	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	Gabbr2	242425	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	Gabbr2	83633	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:7725	epilepsy with generalized tonic-clonic seizures Aliases: Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy	Gabra1 Lgi1	14394 56839	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	Gabra1	14394	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	Gabra1	14394	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7725	epilepsy with generalized tonic-clonic seizures Aliases: Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy	Gabra1 Lgi1	252892 29705	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	Gabra1	29705	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	Gabra1	29705	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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