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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 **10776 - 10800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070473	Zaki syndrome	mig-14	175020	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	AGA	175	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA CTSA GGA2 GGA3 GLA HEXB MITF PSAP PSAPL1 SLC17A5 SLC66A1 TFE3 TFEB VPS16	175 23062 23163 26503 2717 3074 4286 5476 54896 5660 64601 7030 768239 7942	Homo sapiens (human)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	gsy-1	174924	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	C27A7.3 Y43C5A.2 enpl-1 enpp-1 gpx-3 gpx-5 gsy-1 pxn-1 pxn-2	174924 177911 178014 179663 179665 181178 181288 182513 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	C14B9.8 gsy-1 gyg-2 pfk-1.1 pfk-1.2	174924 176149 179335 180119 180583	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	clh-1	174821	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111312	idiopathic generalized epilepsy 11 Aliases: EIG11	clh-1	174821	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081335	Becker disease	clh-1	174821	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081336	Thomsen disease Aliases: Congenital myotonia, autosomal dominant form Thomsen's disease	clh-1	174821	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10579	leukodystrophy	clh-1	174821	Caenorhabditis elegans	Alliance of Genome Resources
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	asp-1 clh-1 dop-2 srp-6 srp-7	174821 179125 179195 179347 180251	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	C47E12.3 W01F3.2 clh-1 cri-2 mec-10 mec-4 pgp-1 pgp-3 pxn-1 pxn-2 zmp-4	174821 177857 178215 179197 179991 180351 181101 181288 181326 181728 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090118	congenital amegakaryocytic thrombocytopenia Aliases: CAMT congenital amegakaryocytic thrombocytopenic purpura	Mpl	17480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	vha-5 vha-6 vha-7	174743 177626 178219	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	vha-5 vha-6 vha-7	174743 177626 178219	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	vha-5 vha-6 vha-7	174743 177626 178219	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112171	wrinkly skin syndrome Aliases: WSS	vha-5 vha-6 vha-7	174743 177626 178219	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14227	azoospermia	hst-1 ptp-3	174685 177675	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	dop-2 ptp-3 smf-1 smf-2 smf-3	174685 177044 179347 180939 191766	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	dsc-4 pfkb-1.2 ptp-3	174685 176852 177363	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	algn-9	174633	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	myrf-1 myrf-2	174614 181229	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080634	nanophthalmos	myrf-1 myrf-2	174614 181229	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5614	eye disease	myrf-1 myrf-2	174614 181229	Caenorhabditis elegans	Alliance of Genome Resources

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