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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 **10676 - 10700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:6195	conjunctivitis	C3 Cfb Mmp2 Plg Ptafr	12266 14962 17390 18815 19204	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11934	head and neck cancer Aliases: head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck	Cyp1a1	13076	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	Gp1ba	14723	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3322	GM1 gangliosidosis Aliases: Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110818	hereditary spastic paraplegia 73 Aliases: SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73	Cpt1c	78070	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13922	eosinophilic esophagitis	Cd40lg Cyp2c29 Pecam1 Tgfb1	13095 18613 21803 21947	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110542	autosomal dominant nonsyndromic deafness 10 Aliases: DFNA10 autosomal dominant deafness 10	Eya4	14051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060956	dystonia 37, early-onset with striatal lesions	Nup54	269113	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111589	COACH syndrome Aliases: Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis	Tmem67	329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	Pnpla6	50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2366	West Nile fever	Ccr5	12774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	Tor1a Tor1b Tor3a	30931 30934 30935	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	Cfc1 Hspg2	12627 15530	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112159	autosomal dominant nonsyndromic deafness 78 Aliases: DFNA78	Slc12a2	20496	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060409	NFIA-related disorder Aliases: 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome	Nfia	18027	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	Atp7a Dpp6 Hexb Kif5b	11977 13483 15212 16573	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060837	isolated microphthalmia 5 Aliases: MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen	Mfrp	259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	Asxl1 Csf3r Ezh2 Kdm6a Tet2	12986 14056 214133 22289 228790	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110224	Brugada syndrome 7 Aliases: BRGDA7	Scn3b	235281	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12029	sympathetic ophthalmia Aliases: Sympathetic uveitis	H2-Eb1	14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111955	immunodeficiency 27A Aliases: IMD27A autosomal recessive IFNGR1 deficiency autosomal recessive MSMD due to partial IFNgammaR1 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency autosomal recessive immunodeficiency 27A, mycobacteriosis autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	Ifngr1	15979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	Pgap3	320655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	St3gal3	20441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2935	Chediak-Higashi syndrome Aliases: CHS Chediak - Steinbrinck anomaly	Wdfy3	72145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060287	cornea plana Aliases: flat cornea	Kera	16545	Mus musculus (house mouse)	Alliance of Genome Resources

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