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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 **3651 - 3675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1701	steroid inherited metabolic disorder	Hsd17b7	15490	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060340	ciliopathy	pkd-2	178424	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	acn-1 gana-1	179660 180780	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	acn-1	180780	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13910	red color blindness Aliases: Protan defect Protanopia	opn1lw.L	399310	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111150	autosomal dominant isolated ectopia lentis 1 Aliases: ECTOL1	Fbn1	14118	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	Pgm3	109785	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:850	lung disease	W01F3.2 acn-1 gnrr-4 gpx-3 gpx-5 let-23 pxn-1 pxn-2 rig-6 srp-3 zmp-2 zmp-4	173828 174462 175383 178672 179991 180351 180780 180841 181178 181288 182513 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:552	pneumonia Aliases: acute pneumonia	Abo2 Abo3 Abo Ace C3 Ccl11 Ccl7 Cd14 Crp Cyp1a1 Fcgr3a Icam1 Il10 Il13 Il1a Il1rn Serpine1 Sftpa1 Sftpb Sftpd Slc11a2 Sod3 Tgfb1 Tnc Tnfrsf1b	100301568 116553 116640 156767 192155 24232 24296 24310 24493 24617 24773 25325 25350 25352 25419 25464 25715 287561 29397 296504 304966 59086 60350 60582 65270	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	flrt3	100144692	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110736	neurodegeneration with brain iron accumulation 2b Aliases: NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	Pla2g6	53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060297	complement component 4a deficiency	C4a	24233	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	agtr1.L	398763	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	NDUFS1	4719	Homo sapiens (human)	Alliance of Genome Resources
DOID:11573	listeriosis Aliases: Infection by Listeria monocytogenes Listeria infection	IL15 IL1RN	3557 3600	Homo sapiens (human)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	GLR1 IZH1	852102 856014	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112242	congenital symmetric circumferential skin creases 1 Aliases: CSCSC1	TUBB	203068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	Fst	24373	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	T07A5.1 T07D3.4 W02B3.4 let-2	173469 181708 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	A2M ACE ADORA1 AGER ANXA1 APOA5 APOB APOE BRINP3 CBS EPHX2 F2 F5 F7 FOLH1 GPX3 GRIN1 GSN HIF1A HLA-A HLA-B HLA-DRB1 HMGB1 HNF1A ICAM1 IFNB1 ITGA9 ITGAM KALRN KCNN4 LIPG LPA LTA MAP2 MTR MYRF NR1H3 PARK7 PDX1 PLA2G7 PON1 PON2 PRKCH PROS1 PTGIS RBP4 SERPINE1 SERPING1 SLC6A1 SOS1 TBXAS1 THBD TNF TNFRSF11B TOMM40 TYMS VIM	10062 10452 11315 116519 134 1636 177 2 2053 2147 2153 2155 2346 2878 2902 2934 301 3091 3105 3106 3123 3146 338 3383 339479 3456 348 3651 3680 3684 3783 4018 4049 4133 4548 4982 5054 5444 5445 5583 5627 5740 5950 6529 6654 6916 6927 7056 710 7124 7298 7431 745 7941 875 8997 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	Col2a1 Gdf6 Nectin1 Sdc2	192183 252834 25412 25615	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110372	retinitis pigmentosa 4 Aliases: RP4	Opn4 Rho	212541 30044	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080528	bronchiectasis 3	SCNN1G	6340	Homo sapiens (human)	Alliance of Genome Resources
DOID:8929	atrophic gastritis Aliases: gastric atrophy	Atp4b	24217	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	MFRP PRPH2 RDH5 RHO RLBP1	5959 5961 6010 6017 83552	Homo sapiens (human)	Alliance of Genome Resources

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