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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 **15276 - 15300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	scav-2 scav-3	176673 176787	Caenorhabditis elegans	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	CCAP-R Hsp110 Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Mvl Octbeta1R Octbeta2R Orct2 Orct Sema2a Sema2b nAChRalpha6	246538 2768688 31926 34304 34978 34979 34981 36846 36868 37104 39557 41549 42490 42652 42890 42891	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081017	congenital fibrosis of the extraocular muscles 3A	TUBB3	10381	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111278	histiocytosis-lymphadenopathy plus syndrome Aliases: Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy	Slc29a3	353307	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110193	Charcot-Marie-Tooth disease type 4F Aliases: CMT4F	Prx	78960	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	GPI19	852047	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070383	developmental and epileptic encephalopathy 97 Aliases: DEE97 early infantile epileptic encephalopathy 97	CELF2	10659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070365	nevoid basal cell carcinoma syndrome 1 Aliases: basal cell nevus syndrome 1	ptc	35851	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11199	hypoparathyroidism	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:3756	protein C deficiency	Proc	19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080065	autosomal recessive spinocerebellar ataxia 19 Aliases: Lichtenstein-Knorr syndrome SCAR19	SLC9A1	6548	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080730	Ehlers-Danlos syndrome cardiac valvular type	COL1A2	1278	Homo sapiens (human)	Alliance of Genome Resources
DOID:699	mitochondrial myopathy Aliases: mitochondrial cytopathy	COL15A1 COL18A1	1306 80781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110354	retinitis pigmentosa 19 Aliases: RP19	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:4926	bronchiolo-alveolar adenocarcinoma Aliases: Bronchioalveolar lung carcinoma Bronchioloalveolar carcinoma Minimally Invasive Lung Adenocarcinoma	Egfr	37455	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:890	mitochondrial encephalomyopathy	Atp7a Cox6b1 Tymp Vars1	110323 11977 22321 72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	AZGP1 BCOR BRCA1 ERBB2 ERBB3 ERBB4 FGFR2 GRB7 KDM4C KMT2C KRAS MDC1 MMP1 MMP2 MMP9 MRE11 MUTYH PARP1 RNF43 SLC3A2 SPARC SPINT1 TNFAIP3 XPO1 XRCC1	142 2064 2065 2066 2263 23081 2886 3845 4312 4313 4318 4361 4595 54880 54894 563 58508 6520 6678 6692 672 7128 7514 7515 9656	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080789	Treacher Collins syndrome 1	TCOF1	6949	Homo sapiens (human)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	Ext1 Ext2 Extl1 Extl3	299907 311215 313610 56819	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Axn	43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	Fcgr2a Fcgr2al1 Fcgr2b Icam1 Tp53	116591 24842 25464 289211 498276	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:631	fibromyalgia	CAT CCL2 COMT IL1RN	1312 3557 6347 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	Alg8	293129	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	Atp1a2	24212	Rattus norvegicus (Norway rat)	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	Plat	25692	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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