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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 **9751 - 9775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:326	ischemia	Atg5 Atg6 Delta if	31666 32661 42313 42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060573	von Willebrand's disease 1 Aliases: VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I	Itga2 Itga2b Plat Vwf	16398 16399 18791 22371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1003	pelvic inflammatory disease Aliases: PID	IL4 PTX3	3565 5806	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112297	spondylometaphyseal dysplasia corner fracture type Aliases: SMDCF spondylometaphyseal dysplasia Sutcliffe type	Fn1	14268	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	ogdh-1	177235	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	CTS2	851977	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12351	alcoholic hepatitis Aliases: acute alcoholic hepatitis acute alcoholic liver disease	ABCB11 AGT AHR ALB CCL2 CCL5 COL1A1 CPT1A CYP7A1 DDR1 FAS ICAM1 IL13 NFKB1 PPARA SLC10A1 SREBF1 TNF	1277 1374 1581 183 196 213 3383 355 3596 4790 5465 6347 6352 6554 6720 7124 780 8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	Dnm1	140694	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	Cpt1a Esr1 Gapdh Gls Mmp9 Nos3 Srf Stat3 Tsc1	12894 13982 14433 14660 17395 18127 20807 20848 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111071	congenital bile acid synthesis defect 1 Aliases: CBAS1	HSD3B7	80270	Homo sapiens (human)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	clptm1l gbgt1l2 gbgt1l3 gbgt1l4 gbgt1l5 gbgt1l8 gbgt1l9	100005565 100005704 387303 436653 447881 563897 566487	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14320	generalized anxiety disorder	GPER1 HTR1A HTR1B HTR1D HTR1E HTR2B NR3C1 SLC6A4 ZNF462	2852 2908 3350 3351 3352 3354 3357 58499 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	Robo1	19876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10933	obsessive-compulsive disorder Aliases: Anancastic neurosis obsessive compulsive disorder	comta comtb	561372 565370	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	SLC24A1	9187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	Krt5	110308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111992	immunodeficiency 53 Aliases: IMD53	RELB	5971	Homo sapiens (human)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	b4galt1.2.L b4galt1.2.S b4galt1.L b4galt1.S	108706812 108706813 108712215 108712216	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	Ndufs1 Ndufs2 Ndufs4	289218 301458 499529	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	MNT PAFAH1B1 YWHAE	4335 5048 7531	Homo sapiens (human)	Alliance of Genome Resources
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	Mtor	56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110338	osteogenesis imperfecta type 17 Aliases: OI17 osteogenesis imperfecta type XVII	SPARC	6678	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	15275	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources

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