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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **1876 - 1900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	IL1RL1 RPE	6120 9173	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	298690	Rattus norvegicus (Norway rat)
DOID:2755	Mycobacterium avium complex disease Aliases: Infection due to Mycobacterium intracellulare MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0070432	hyperphosphatasia with impaired intellectual development syndrome 5 Aliases: GPIBD11 HPMRS5 glycosylphosphatidylinositol biosynthesis defect 11 hyperphosphatasia with mental retardation syndrome 5	PIGW	284098	Homo sapiens (human)
DOID:9975	cocaine dependence	manea.L	446517	Xenopus laevis (African clawed frog)
DOID:8536	herpes zoster Aliases: Shingles herpes zona	ARSA CYP11A1 CYP17A1 ENOSF1 GP2 TECTA TNF	1583 1586 2813 410 55556 7007 7124	Homo sapiens (human)
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	ugt1a6.S	100037183	Xenopus laevis (African clawed frog)
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	MANBA SGSH	4126 6448	Homo sapiens (human)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	208624	Mus musculus (house mouse)
DOID:0110949	Waardenburg syndrome type 3 Aliases: Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with upper limb anomalies	IDS	3423	Homo sapiens (human)
DOID:0060765	autosomal dominant Robinow syndrome 2 Aliases: DRS2	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0002116	pterygium Aliases: surfer's eye	Ogg1	31806	Drosophila melanogaster (fruit fly)
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	OGG1	854942	Saccharomyces cerevisiae S288C
DOID:3306	mixed germ cell cancer Aliases: mixed germ cell neoplasm mixed germ cell tumor mixed germ cell tumour mixed teratoma and seminoma	CYP17A1	1586	Homo sapiens (human)
DOID:4205	cerebellum cancer Aliases: cerebellar cancer malignant tumor of Cerebellum	PTEN	5728	Homo sapiens (human)
DOID:4959	epidermolysis bullosa dystrophica Aliases: Dystrophic epidermolysis bullosa	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)
DOID:14286	neurogenic arthropathy Aliases: Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy	ACAN ALOX5 CD14 CHI3L1 CHST3 CNTN2 CPT2 DCN DHCR24 ENPP1 GPI HJV HK1 IL1R1 LGALS3 MBL2 PTGS1 PTGS2 SFTPD SMUG1 VCAN VTCN1	1116 1376 1462 148738 1634 1718 176 23583 240 2821 3098 3554 3958 4153 5167 5742 5743 6441 6900 79679 929 9469	Homo sapiens (human)
DOID:0050852	limb ischemia	Cs	12974	Mus musculus (house mouse)
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	ACE ARSA CD14 CD1D CHI3L1 CHIT1 FCGR3B GALC GBA1 GBA2 GBA3 GLA GLB1 GPNMB HEXA IDUA INPP5K MAN1A1 MGAM OGA PAFAH1B1 PKLR PPT1 PSAP SI SMPD1 TNF UGCG UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10457 10724 1116 1118 1636 2215 2581 2629 2717 2720 3073 3425 410 4121 5048 51763 5313 54575 54576 54577 54578 54579 54600 54657 54658 54659 5538 5660 57704 57733 6476 6609 7124 7357 8972 912 929	Homo sapiens (human)
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2	35105 35137 35138 35139 35307 40079 41334 41574 42538 53501 53502 53503 53504 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	25283	Rattus norvegicus (Norway rat)
DOID:4297	scimitar syndrome Aliases: Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome	DHCR24 LFNG	1718 3955	Homo sapiens (human)
DOID:1759	American histoplasmosis	ATP6V1A LGALS1	3956 523	Homo sapiens (human)
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	Glb1	12091	Mus musculus (house mouse)

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