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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 **11101 - 11125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	45566 W01F3.2 abts-4 cle-1 cri-2 daf-2 ina-1 let-23 ncam-1 ost-1 sup-17 timp-1 zmp-4	172678 172689 172841 174462 175410 176296 176931 179197 179199 179991 180351 180418 180943	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110839	Usher syndrome type 2C Aliases: USH2C Usher syndrome IIC Usher syndrome type IIC	abts-1	172613	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	abts-1 abts-4 ida-1	172613 175807 180943	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	W01F3.2 abts-1 cpi-1 daf-4 glp-1 mrp-1 mrp-2 mrp-7 ncam-1 plr-1 ugt-61 ver-4 zmp-2 zmp-4	172613 175383 175781 176286 176575 177372 179991 180289 180351 180408 180409 180418 185500 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12387	nephrogenic diabetes insipidus	abts-1 ntr-1 ntr-2 stim-1	172613 175201 184471 188227	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	abts-1 abts-4 cpr-3 cpr-4 cpr-6 vha-5 vha-6 vha-7	172613 174743 177626 178219 179053 180033 180931 180943	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	Mef2c	17260	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060799	syndromic X-linked intellectual disability Lubs type Aliases: Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080899	lung pleomorphic carcinoma	Slc3a2 Slc7a5	17254 20539	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080202	adenoid cystic carcinoma	Kdm6a Ntrk3 Slc3a2 Slc7a5 Trp53 Xrn2	17254 18213 20539 22059 22289 24128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112168	autosomal dominant nonsyndromic deafness 77 Aliases: DFNA77	Abcc1	17250	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	plag-15	172457	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	W01F3.2 drag-1 glr-3 grd-2 pgp-1 pgp-3 snf-11 unc-47 wrt-6 zmp-4	172449 176431 178215 179991 180349 180351 180638 181326 190602 191770	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1824	status epilepticus Aliases: Grand mal status	W01F3.2 adm-2 gab-1 glr-1 glr-2 glr-3 glr-5 mef-2 mrp-1 mrp-7 nlg-1 pgp-1 pgp-3 pkc-2 sup-17 sup-9 zmp-2 zmp-4	172449 172689 172732 173613 175383 175999 176204 176691 178215 179251 179991 180289 180351 180409 181166 181326 181484 181489	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv-1	172305	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111153	congenital mirror movement disorder Aliases: familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements	unc-40 unc-6	172233 180961	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	T13H5.8 W01F3.2 acr-15 acr-16 acr-3 acr-7 cdh-4 daf-4 dbl-1 dpf-1 dpf-2 eat-2 glt-4 gpx-3 gpx-5 let-23 ptc-1 ptc-3 unc-40 vab-1 zmp-4	172233 173631 173794 174262 174274 174362 174462 175072 175590 175781 179068 179235 179991 180042 180351 180937 181178 181579 182513 188744 191602	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9256	colorectal cancer	W01F3.2 adm-2 cdh-4 cest-1.2 daf-1 ddr-2 ges-1 glp-1 gly-5 gpx-3 gpx-5 grd-2 hda-4 hrpu-1 lad-2 let-23 lin-12 plr-1 skn-1 sma-6 stim-1 sup-17 unc-40 ver-1 ver-4 wrt-6 zmp-4	172233 172689 174044 174462 175182 175201 175590 176282 176286 176575 176736 176829 177078 177343 178421 178633 179914 179991 180349 180351 180622 180638 181178 181489 181723 182513 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	aprt-1	172232	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	aprt-1	172232	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2773	contact dermatitis Aliases: Contact dermatitis/eczema Contact eczema Dermatitis, venenata dermatitis venenata	Cd46	17221	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	Ccl2 Cd46 Fbln5 Ppargc1a	17221 19017 20296 23876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	Mcm4	17217	Mus musculus (house mouse)	Alliance of Genome Resources

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