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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 **10451 - 10475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	R193.2 daf-2 egl-3 folt-1 folt-2 folt-3 gpx-3 gpx-5 grd-2 klo-1 skn-1 slc-46A wrt-6	175410 177343 177557 178745 179412 179544 180349 180638 181178 182256 182513 189356 4363081	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	R193.2 let-2	181708 182256	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	R193.2	182256	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050557	congenital muscular dystrophy	R193.2	182256	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	R193.2	182256	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2033	communication disorder	R193.2	182256	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090050	dystonia 27	R193.2	182256	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081271	Smith-McCort dysplasia 2	RAB33B	83452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	RAB5IF	55969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050539	Charcot-Marie-Tooth disease type 2 Aliases: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2	RAB7A	7879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110159	Charcot-Marie-Tooth disease type 2B Aliases: CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB	RAB7A	7879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080235	autosomal dominant intellectual developmental disorder 48 Aliases: autosomal dominant mental retardation 48	RAC1 RAC2 RAC3	5879 5880 5881	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Aliases: IMD73C	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia Aliases: IMD73B	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis Aliases: IMD73A neutrophil immunodeficiency syndrome	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050671	female breast cancer	RAD30 RIM15	850511 852028	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	RAD30	852028	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	RAD30	852028	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111096	Fanconi anemia complementation group O Aliases: FANCO	RAD51C	5889	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060583	Noonan syndrome 5 Aliases: NS5	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080549	Noonan syndrome with multiple lentigines 2 Aliases: LEOPARD syndrome 2	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110432	dilated cardiomyopathy 1NN Aliases: CMD1NN	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060853	Potocki-Lupski syndrome Aliases: 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2	RAI1	10743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050905	inflammatory myofibroblastic tumor	RANBP2	5903	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111694	familial adult myoclonic epilepsy 7 Aliases: BAFME7 FAME7 FCMTE7 benign adult familial myoclonic epilepsy 7 familial cortical myoclonic tremor and epilepsy 7	RAPGEF2	9693	Homo sapiens (human)	Alliance of Genome Resources

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