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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 **7776 - 7800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110440	dilated cardiomyopathy 1J Aliases: CMD1J autosomal dominant dilated cardiomyopathy with sensorineural hearing loss neurosensory deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy sensorineural deafness with dilated cardiomyopathy sensorineural hearing loss with dilated cardiomyopathy	Eya4	14051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080802	autosomal recessive craniometaphyseal dysplasia	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3galt6	117592	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	Idua	15932	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080445	developmental and epileptic encephalopathy 13 Aliases: DEE13 early infantile epileptic encephalopathy 13	Scn8a	20273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070484	Legius syndrome Aliases: LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome	Spred1	114715	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	Hgf Icam1 Il13 Mmp1a Tgfb1	15234 15894 16163 21803 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	Dag1	13138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:445	Bartter disease Aliases: Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome	Clcnkb Slc12a1	20495 56365	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0002116	pterygium Aliases: surfer's eye	Kdr Mmp2 Mmp9 Ogg1 Pecam1 Trp53 Vegfa Vegfc	16542 17390 17395 18294 18613 22059 22339 22341	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	Stt3a Stt3b	16430 68292	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	Emc1	230866	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	Aars1 Cadm3 Fbln5 Itpr3 Jag1 Mpz Mtmr1 Mtmr9 Nefl Pmp22 Slc12a6 Tnfrsf11b Yars1	107271 107723 16440 16449 17528 18039 18383 18858 210376 234734 23876 53332 94332	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10113	trypanosomiasis	A2m Bche Il4	12038 16189 232345	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111700	ankyrin-B-related cardiac arrhythmia Aliases: ankyrin-B syndrome	Ank2	109676	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	Ager Cd209a Cd209b Cd209c Cd209d Clec1a Il15 Tlr1 Tlr6	11596 16168 170776 170779 170786 21897 21899 243653 69165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080591	Klippel-Feil syndrome 3	Gdf3	14562	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	Arhgap31 Dll4 Dock6 Eogt Notch1	101351 12549 18128 319899 54485	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2723	dermatitis Aliases: eczema skin inflammation	Adrb2 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Hcn2 Ikbkb Il13 Tnf	110557 11555 14964 14972 14990 15006 15007 15013 15015 15018 15043 15166 16150 16163 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110266	cataract 9 multiple types Aliases: CTRCT9 cataract 9 multiple types with or without microcornea	Cryaa	12954	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080679	neuronal intestinal dysplasia type A	Erbb3	13867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110083	arrhythmogenic right ventricular dysplasia 12 Aliases: ARVC12 ARVD12 arrhythmogenic right ventricular cardiomyopathy 12 familial arrhythmogenic right ventricular dysplasia 12	Jup	16480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	Braf Cdh1 Ctnnb1 Minpp1 Myc Rap1gap Rxrg Srgap1 Trp53	109880 110351 117600 12387 12550 17330 17869 20183 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	Cacna1a Cacna1b Calca Cd40lg Ednra Esr1 Fos Htr7 Kcnk18 Nos3 Phactr1 Tnf Trpv1	12286 12287 12310 13617 13982 14281 15566 18127 193034 218194 21926 21947 332396	Mus musculus (house mouse)	Alliance of Genome Resources

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