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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 **11951 - 11975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	MOCOS	55034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111545	familial male-limited precocious puberty Aliases: FMPP familial gonadotropin-independent male-limited sexual precocity male-limited precocious puberty testotoxicosis	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	CDKN1B DLST SDHA SDHAF2 SDHB SDHC SDHD SLC25A11	1027 1743 54949 6389 6390 6391 6392 8402	Homo sapiens (human)	Alliance of Genome Resources
DOID:13399	color blindness Aliases: BLINDNESS COLOR Colour blindness Colour vision deficiency	BDNF CNGA3 TYR	1261 627 7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070344	ocular tuberculosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110708	hypotrichosis 11 Aliases: Hypt11	SNRPE	6635	Homo sapiens (human)	Alliance of Genome Resources
DOID:14450	46 XX gonadal dysgenesis Aliases: ovarian dysgenesis	FSHR NUP107	2492 57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112025	female-restricted syndromic X-linked intellectual disability 99 Aliases: MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability female-restricted syndromic X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:3132	porphyria cutanea tarda	CYP1A1 CYP1A2 HFE	1543 1544 3077	Homo sapiens (human)	Alliance of Genome Resources
DOID:11335	sarcoidosis Aliases: Boeck sarcoid lymphogranulomatosis	ACE AGTR1 BTNL2 CCR2 CCR5 CD14 CFH CMA1 CTLA4 HLA-B HLA-DQB1 HLA-DRB1 HP IL23R PTGS2 SFTPD SLC11A1	1215 1234 149233 1493 1636 185 3075 3106 3119 3123 3240 56244 5743 6441 6556 729230 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080475	psoriasis 2	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081318	multiple synostoses syndrome 2	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111144	preterm premature rupture of the membranes Aliases: PPROM	F3 SERPINH1 TFPI	2152 7035 871	Homo sapiens (human)	Alliance of Genome Resources
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	HLA-DQA1 HLA-DQB1 HLA-DRB1	3117 3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111480	combined oxidative phosphorylation deficiency 10 Aliases: COXPD10 infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	MTO1	25821	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	VWF	7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	GBE1	2632	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112122	X-linked epilepsy with variable learning disabilities and behavior disorders Aliases: X-linked epilepsy-learning disabilities-behavior disorders syndrome	SYN1	6853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110339	osteogenesis imperfecta type 3 Aliases: OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera	COL1A1 COL1A2 SMPD3	1277 1278 55512	Homo sapiens (human)	Alliance of Genome Resources
DOID:8619	recurrent hypersomnia Aliases: primary recurrent hypersomnia	CHKB	1120	Homo sapiens (human)	Alliance of Genome Resources
DOID:1742	drug psychosis Aliases: Drug-induced psychosis Drug-induced psychotic disorder	DRD2 GAD1 GAD2 OPRM1	1813 2571 2572 4988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070073	autosomal dominant intellectual developmental disorder 43 Aliases: MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43	HIVEP2	3097	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:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	IMPG1 IMPG2 PRPH2	3617 50939 5961	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

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