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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 **9151 - 9175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0050890	synucleinopathy Aliases: Synucleinopathies alpha Synucleinopathies	Dctn1	29167	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060486	Perry syndrome Aliases: parkinsonism with alveolar hypoventilation and mental depression	Dctn1	29167	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14 Aliases: DHMN7B HMN VIIB HMN7B Harper-Young myopathy distal hereditary motor neuronopathy type 7B distal hereditary motor neuropathy type VIIB distal spinal muscular atrophy with vocal cord paralysis type 7B	Dctn1	29167	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	Sil1	291673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	Sil1	291673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080038	pycnodysostosis	Ctsk	29175	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110703	hypotrichosis 6 Aliases: Hypotrichosis, Localized, Autosomal Recessive 1 Hypt6 Lah1 Monilethrix-like hypotrichosis autosomal recessive localized hypotrichosis	Dsg4	291754	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4535	hypotrichosis	Dsg4	291754	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	Bmp2 Hfe	29199 29373	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	Hfe Mmp9	29199 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	Hfe	29199	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	Aprt	292072	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12804	mucopolysaccharidosis IV Aliases: Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency	Ccl11 Galns	292073 29397	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	Galns	292073	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	Casq2	29209	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060676	catecholaminergic polymorphic ventricular tachycardia 2 Aliases: CVPT2	Casq2	29209	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	Galnt2	292090	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11829	degenerative myopia Aliases: degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia	Lrp2	29216	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090144	Donnai-Barrow syndrome Aliases: DBS/FOAR syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness	Lrp2	29216	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060895	Parkinson's disease 4 Aliases: autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4	Snca	29219	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	Snca	29219	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11088	asphyxia neonatorum Aliases: Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia	MAP2 PDIA3 XRCC1	2923 4133 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060564	spinal disease	Penk	29237	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4990	essential tremor Aliases: benign essential tremor essential hereditary tremor shaky hand syndrome	Drd3	29238	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111428	essential tremor 1 Aliases: ETM1 hereditary essential tremor 1	Drd3	29238	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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