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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 **4526 - 4550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0110678	congenital myasthenic syndrome 4A Aliases: CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1	Chrne	29422	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	Chrne	29422	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	Chrng	25753	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	Chst14	691394	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	Chst14	72136	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	Chst3	53374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	Chst3	84468	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	Chst5	307859	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	Chst5	56773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy	32497	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy1	269941	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy1	292999	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	Cht10 Cht2 Snmp1 Snmp2	3355116 38223 38868 42514	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050127	sinusitis	Cht10 Cht2 Tl	3355116 38223 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	Cht10 Cht2	3355116 38223	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:150	disease of mental health	Cic Stx1a	20907 71722	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080236	autosomal dominant intellectual developmental disorder 45 Aliases: autosomal dominant mental retardation 45	Cic	71722	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112194	Filippi syndrome Aliases: Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome	Ckap2l	70466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080330	cold-induced sweating syndrome 2	Clcf1	56708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	Clcn2 Cybb Drd2 Nr3c1 Ren1 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e	12724 13058 13489 14815 19701 20700 20701 20702 20703 20704	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111312	idiopathic generalized epilepsy 11 Aliases: EIG11	Clcn2	12724	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	Clcn3 Clcn5 Csf1 Ghr Mitf Slc4a2	12725 12728 12977 14600 17342 20535	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	Clcn3 Clcn5	12725 12728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	Clcn3 Clcn5	12725 12728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	Clcn3 Clcn6 Cln3 Ppt1	12725 12752 19063 26372	Mus musculus (house mouse)	Alliance of Genome Resources

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