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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 **676 - 700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050638	transthyretin amyloidosis Aliases: ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis	ttr.L	397787	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	C3 C5 CXCR4 HLA-DQA1 HLA-DQB1 PIGA PIGT	3117 3119 51604 5277 718 727 7852	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060737	junctional epidermolysis bullosa Herlitz type Aliases: Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type	mew	32275	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	Stt3B	43005	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4479	pseudohypoaldosteronism	asic-1 asic-2 deg-1 mec-10 mec-4 unc-105 unc-8	174306 177494 181035 181101 181728 189058 191422	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	dep-1 ver-1 ver-3 ver-4	174437 175182 181289 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	mboat7 pomk	393509 492773	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:8432	polycythemia Aliases: Erythrocythemia	Ace Egln1 Epor	112405 11421 13857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080866	primary ovarian insufficiency 9	HFM1	164045	Homo sapiens (human)	Alliance of Genome Resources
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081128	mandibuloacral dysplasia type A lipodystrophy	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	Acer Ance-3 Ance Dg Mdr49 Mdr65 Nup62 Oatp74D	34189 34805 34808 36428 36773 36830 38726 39954	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110862	congenital stationary night blindness autosomal dominant 1 Aliases: CSNBAD1 rhodopsin-related congenital stationary night blindness	rho	100037900	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1934	dysostosis	apx-1 efn-4	176882 178759	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110827	Usher syndrome type 2 Aliases: USH2	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:3049	Churg-Strauss syndrome Aliases: Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis	Gdnf Gfra1 Il5 Stat3 Vtn	14573 14585 16191 20848 22370	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5485	synovial sarcoma	CG10555	31771	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11400	pyelonephritis	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:9784	trichinosis Aliases: Trichinella spiralis infection	Slc17a8	216227	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	FBN2	2201	Homo sapiens (human)	Alliance of Genome Resources
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone deficiency	EIF2S3 SMPD3	1968 55512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080766	erythrokeratodermia variabilis et progressiva 6	TRPM4	54795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	364675	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11342	arcus senilis Aliases: Arcus of cornea corneal arcus	KERA	11081	Homo sapiens (human)	Alliance of Genome Resources

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