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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 **4901 - 4925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ABCC6 ENPP1	368 5167	Homo sapiens (human)	Alliance of Genome Resources
DOID:13141	uveitis	ACE ANXA1 AOC3 AQP1 AQP4 ASS1 CCL2 CCL5 CCR5 CD163 CX3CL1 GC HLA-A HLA-B HLA-DQA1 HLA-DQA2 HLA-DQB1 HLA-DQB2 HLA-DRB1 HSPA1L ICAM1 ICOS IFNG IFNGR1 IL10 IL13 IL17A IL1A IL23R IL2 IL6 IL6R LCN2 NR3C1 RELA SERPINA3 SERPINF1 SNCB TGFB1 TJP1 TLR4 TNF TNFRSF1A	12 1234 149233 1636 2638 2908 29851 301 3105 3106 3117 3118 3119 3120 3123 3305 3383 3458 3459 3552 3558 3569 3570 358 3586 3596 3605 361 3934 445 5176 5970 6347 6352 6376 6620 7040 7082 7099 7124 7132 8639 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070204	familial partial lipodystrophy type 3 Aliases: FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations	PPARG	5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:520	aortic disease Aliases: aortic disorder disorder of the aorta	AGER SMAD4 VCAM1	177 4089 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110839	Usher syndrome type 2C Aliases: USH2C Usher syndrome IIC Usher syndrome type IIC	ADGRV1 PDZD7 SLC4A7	79955 84059 9497	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome Aliases: Bennion-Patterson syndrome Howell-Evans syndrome TOC keratosis palmaris et plantaris with esophageal cancer keratosis palmoplantaris-esophageal carcinoma syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma with esophageal cancer tylosis with esophageal cancer tylosis-oesophageal carcinoma syndrome	RHBDF2	79651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	COL1A1 COL1A2 SMPD3	1277 1278 55512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110820	hereditary spastic paraplegia 75 Aliases: SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75	MAG	4099	Homo sapiens (human)	Alliance of Genome Resources
DOID:11573	listeriosis Aliases: Infection by Listeria monocytogenes Listeria infection	IL15 IL1RN	3557 3600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110415	retinitis pigmentosa 2 Aliases: RP2	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	EMC1	23065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7 Aliases: EDMD7 Emery-Dreifuss muscular dystrophy 7, autosomal dominant	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060286	combined oxidative phosphorylation deficiency	MTO1 TEFM	25821 79736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112332	pontocerebellar hypoplasia type 13 Aliases: PCH13	VPS51	738	Homo sapiens (human)	Alliance of Genome Resources
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	CBS	875	Homo sapiens (human)	Alliance of Genome Resources
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	ABO ADAMTS13 CAST CYP2C19 FCGR2A G6PD HLA-DQB1 HP IL13 MBL2 TNF	11093 1557 2212 2539 28 3119 3240 3596 4153 7124 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	MUC1 REN UMOD	4582 5972 7369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081137	agammaglobulinemia 3	CD79A	973	Homo sapiens (human)	Alliance of Genome Resources
DOID:10887	lepromatous leprosy Aliases: type L leprosy	C3 CD163 CFB HLA-DQA1 MBL2	3117 4153 629 718 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	BMP4 CCN1 CRELD1 DNAH11 GATA4 NR1D2	2626 3491 652 78987 8701 9975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	PHKG2	5261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050200	Korean hemorrhagic fever	IL2RA	3559	Homo sapiens (human)	Alliance of Genome Resources

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