GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5426 - 5450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:9278	hyperargininemia Aliases: Arginase deficiency argininemia deficiency of canavanase	ARSD	414	Homo sapiens (human)
DOID:0050432	Asperger syndrome	ARSD SLC25A12	414 8604	Homo sapiens (human)
DOID:0080505	Cornelia de Lange syndrome 1	ARSD GALNT14 SMC3 TNKS	414 79623 8658 9126	Homo sapiens (human)
DOID:0060252	sclerocornea Aliases: isolated congenital sclerocornea	ARSD EFNA5 FIG4	1946 414 9896	Homo sapiens (human)
DOID:93	language disorder	ARSD DLD GPD2 PPP1R3A PRPS1 STS	1738 2820 412 414 5506 5631	Homo sapiens (human)
DOID:2033	communication disorder	ARSD DLD GPD2 PPP1R3A PRPS1 PTEN STS	1738 2820 412 414 5506 5631 5728	Homo sapiens (human)
DOID:13417	alexia Aliases: Aphemesthaesia acquired dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)
DOID:4428	dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	ARSD CACNA2D1	414 781	Homo sapiens (human)
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	ARSD CACNA2D1	414 781	Homo sapiens (human)
DOID:6420	pulmonary valve stenosis	ARSD B3GLCT B4GALT7 CHST3 CYP24A1 ENPP1 FKTN G6PC3 GALNT1 PIGQ PMM2 SMC3	11285 145173 1591 2218 2589 414 5167 5373 9091 9126 92579 9469	Homo sapiens (human)
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	ARSD B3GAT3 CHST3 CYP1B1 FUT8	1545 2530 26229 414 9469	Homo sapiens (human)
DOID:11211	buphthalmos Aliases: primary congenital glaucoma 3A simple buphthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:11212	hydrophthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:0060476	Perlman syndrome Aliases: nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:5572	Beckwith-Wiedemann syndrome	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ARSB GFPT1 GFPT2 PLA2G2A	2673 411 5320 9945	Homo sapiens (human)
DOID:0111395	mucopolysaccharidosis type IIIA Aliases: MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A)	ARSB CHAT EXT1 EXT2 EXTL2 EXTL3 GNS HGSNAT IDS IDUA NAGLU OGA SGSH SUMF1	10724 1103 138050 2131 2132 2135 2137 2799 285362 3423 3425 411 4669 6448	Homo sapiens (human)
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	ARSB CAT FUT1 IDUA	2523 3425 411 847	Homo sapiens (human)
DOID:319	spinal cord disease	ARSB B3GALT6 CD38 CNTN2 CNTN3 ERLEC1 EXT1 GNPTAB HMGCS1 HPRT1 IDUA IL18RAP MINPP1 PTGS2 SLC26A2 SMUG1 TMTC1	126792 1836 2131 23583 27248 3157 3251 3425 411 5067 5743 6900 79158 83857 8807 952 9562	Homo sapiens (human)
DOID:819	mediastinitis	ARSA	410	Homo sapiens (human)
DOID:6712	anterior spinal artery syndrome Aliases: Anterior spinal artery occlusion syndrome	ARSA	410	Homo sapiens (human)
DOID:1829	urethral stricture	ARSA	410	Homo sapiens (human)

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