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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 **12126 - 12150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	FGF9 HRAS KRAS LATS1 LATS2 LLGL1 LLGL2 NRAS POLE PPARGC1A SCRIB	10891 2254 23513 26524 3265 3845 3993 3996 4893 5426 9113	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070307	craniolenticulosutural dysplasia Aliases: Boyadjiev-Jabs Syndrome cranio-lenticulo-sutural dysplasia, CLSD	SEC23A SEC23B	10483 10484	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060409	NFIA-related disorder Aliases: 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome	NFIA	4774	Homo sapiens (human)	Alliance of Genome Resources
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	ABCB7 CALR TRNT1	22 51095 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANO6	196527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16 Aliases: CMS16 congenital myasthenic syndrome acetazolamide-responsive	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	TOR1A TOR1B TOR2A TOR3A	1861 27348 27433 64222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	SH2D1A	4068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1856	cherubism	SH3BP2	6452	Homo sapiens (human)	Alliance of Genome Resources
DOID:1098	fetal erythroblastosis Aliases: EF - Erythroblastosis foetalis Haemolytic disease due to rhesus isoimmunisation erythroblastosis fetalis rhesus isoimmunisation of the newborn	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:12935	alcoholic cardiomyopathy Aliases: Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol	NOS1 PPARG	4842 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060449	gelatinous drop-like corneal dystrophy Aliases: GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea	CLU TACSTD2	1191 4070	Homo sapiens (human)	Alliance of Genome Resources
DOID:1395	schistosomiasis	HLA-DRB1	3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110925	familial hemophagocytic lymphohistiocytosis 5 Aliases: FHL5 HLH5 HPLH5	STXBP2	6813	Homo sapiens (human)	Alliance of Genome Resources
DOID:3495	extrahepatic bile duct adenocarcinoma Aliases: adenocarcinoma of extrahepatic bile duct	BAP1 PBRM1 RAC1 SLC7A5	55193 5879 8140 8314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070486	Parkinson's disease 25 Aliases: PARK25 autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development	PTPA	5524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111740	X-linked deafness 6 Aliases: DFNX6	COL4A6	1288	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080052	acromesomelic dysplasia, Grebe type Aliases: acromesomelic dysplasia-2A grebe chondrodysplasia	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040086	Polyomavirus-associated nephropathy Aliases: PVAN polyomavirus associated nephropathy	KIR3DS1	3813	Homo sapiens (human)	Alliance of Genome Resources
DOID:12132	granulomatosis with polyangiitis Aliases: Necrotizing respiratory granulomatosis Wegener granulomatosis, formerly	CCR3 CCR5 CD36 CD40LG CTLA4 FCAR IL10 THBD VTN	1232 1234 1493 2204 3586 7056 7448 948 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070024	autosomal recessive dyskeratosis congenita 6 Aliases: DKCB6	PARN	5073	Homo sapiens (human)	Alliance of Genome Resources
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	PCCA PCCB	5095 5096	Homo sapiens (human)	Alliance of Genome Resources

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