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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 **7476 - 7500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9	79796	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2	38545 42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070233	Loeys-Dietz syndrome 4 Aliases: Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations LDS4	TGFB2	7042	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	prom1a	322857	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APRT HPRT1	3251 353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	ALG12	79087	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	algn-12	179185	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3247	rhabdomyosarcoma	Angpt2	89805	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	Atg6 CG7546 InR Ser Snmp2 Spn28Dc dpp gbb htl scw	33432 34091 37778 38844 38868 42160 42549 42850 43275 46000	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070416	Luo-Schoch-Yamamoto syndrome Aliases: LUSYAM	RING1 RNF2	6015 6045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110543	autosomal dominant nonsyndromic deafness 11 Aliases: DFNA11 autosomal dominant deafness 11	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	BRWD1 CFAP74 DNAH5 DNAH7 ODAD3 PCSK5 SLIT2 SPEF2 TTLL1	115948 1767 25809 5125 54014 56171 79925 85452 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111193	facioscapulohumeral muscular dystrophy 2 Aliases: FSHD2 facioscapulohumeral muscular dystrophy 1B facioscapulohumeral muscular dystrophy type 2	Smchd1	74355	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	SCN8A	6334	Homo sapiens (human)	Alliance of Genome Resources
DOID:13628	favism	ZWF1	855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5804	discrete subaortic stenosis	FADS2	9415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	Enam	13801	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	alg12	569494	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1596	depressive disorder Aliases: mental depression	Adra2a Atp5pd Bdnf Cdk5 Chrm2 Chrnb3 Chrnb4 Creb1 Crhr1 Crhr2 Crp Cyp1a2 Dbh Drd2 Drd5 Esr2 Gabra5 Gdnf Gpm6a Gpm6b Gsk3b Htr1a Htr2a Htr3b Il1rn L1cam Ncam1 Nefl Ngf Ngfr Nos1 Nos1ap Ntrk2 Oprk1 Panx1 Ren Slc5a7 Slc6a4 Snca Sncg Th Uqcrb	140908 171131 192179 192363 24225 24297 24318 24473 24586 24596 24598 24715 25054 25083 25085 25103 25149 25195 25419 25453 25553 25699 29219 29335 29595 29707 306439 310738 315435 362897 50687 58959 58963 60582 641434 64347 64680 81645 81646 83613 84027 85426	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	cam-1 sdn-1	174473 181259	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	Grn	29143	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3783	Coffin-Lowry syndrome	Rps6ka1	20111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3042	allergic contact dermatitis	Tl	43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	Vegfa	83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080420	developmental and epileptic encephalopathy 62 Aliases: DEE62 early infantile epileptic encephalopathy 62	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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