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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 **10226 - 10250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0050328	congenital hypothyroidism	Actbeta CG32669 Duox Zw kumpel	326229 32974 33477 43136 43826	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112185	thyroid dyshormonogenesis 1 Aliases: TDH1 genetic defect in thyroid hormonogenesis 1 iodide accumulation, transport, or trapping defect	CG32669 kumpel	326229 43136	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1059	intellectual disability	Nrx-IV Pgi SMC3 drl if mnb sfl teq	32627 32661 32771 35886 38736 39048 39387 44355	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	32627	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	SMC3	32627	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ATP7B HRAS IL10 NRAS	3265 3586 4893 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080690	RASopathy Aliases: RAS/mitogen-activated protein kinase syndrome	HRAS KRAS MAP2K1 MAP2K2 NRAS RREB1 SHOC2	3265 3845 4893 5604 5605 6239 8036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060581	Noonan syndrome 3 Aliases: NS3	HRAS KRAS NRAS	3265 3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	HRAS KRAS NRAS	3265 3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111359	large congenital melanocytic nevus Aliases: Congenital pigmented nevus GMN Giant congenital melanocytic nevus Giant pigmented hairy nevus LCMN	HRAS NRAS	3265 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:591	phobic disorder	HRAS MED12	3265 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050469	Costello syndrome Aliases: FCS SYNDROME Faciocutaneoskeletal Syndrome	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	Nep2 goe	32660 40588	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	Nep2 goe	32660 40588	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	Acer Ance Atg6 Balat CarT Col4a1 Dop1R1 Dop2R Hmgcr Mdr49 Mdr65 Octbeta2R Orct2 Orct Pxn Tl crq if mys pes	32661 33007 33219 33727 34087 34189 34805 35334 36417 36428 38326 38726 41549 41726 42803 42850 42890 42891 43222 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	Ance-3 Spn28Dc if	32661 34091 34808	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	Spn28Dc if	32661 34091	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	Acer Ance if	32661 34189 34805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	Gale if mys scb	32661 36692 38076 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	if mys scb	32661 36692 44885	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	if scb	32661 36692	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4783	mesangial proliferative glomerulonephritis	htl if	32661 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4248	coronary stenosis Aliases: Coronary artery stenosis	InR if	32661 42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060691	platelet-type bleeding disorder 16 Aliases: autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli	if mys	32661 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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