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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 **5226 - 5250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	Gnptab	432486	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111017	cone-rod dystrophy 10 Aliases: CORD10	Sema4a	20351	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110077	arrhythmogenic right ventricular dysplasia 9 Aliases: ARVC9 ARVD9 arrhythmogenic right ventricular cardiomyopathy 9 familial arrhythmogenic right ventricular dysplasia 9	PKP2	5318	Homo sapiens (human)	Alliance of Genome Resources
DOID:1733	cryptosporidiosis Aliases: Cryptosporidial gastroenteritis Infection by Cryptosporidium intestinal cryptosporidiosis	Mbl2	17195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	Klk4	56640	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	Atp6v0a1 Atp6v0a2	11975 21871	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	dbl-1 gpx-3 gpx-5 let-23 ost-1	174462 176931 179068 181178 182513	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110453	dilated cardiomyopathy 1EE Aliases: CMD1EE	Myh6	17888	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4481	allergic rhinitis Aliases: Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis	pon2	448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	Ctns	83429	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050155	sensory system disease	Tbl1x	21372	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050904	salivary gland carcinoma	Kdr Ptgs1	16542 19224	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Pklr Tnf	24651 24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	bace2	100216145	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:13100	intracranial vasospasm	Ccl2 Ryr1 Tnc	20190 20296 21923	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	Per2	18627	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110573	autosomal dominant nonsyndromic deafness 4A Aliases: DFNA4A autosomal dominant deafness 4A	Ceacam16	330483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	SLC29A1	2030	Homo sapiens (human)	Alliance of Genome Resources
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	ANXA1	301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	Zasp52	36740	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	Adar	56417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	igf1r.S	398022	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	DNM1 GABRA1 HCN4 KCNMA1	10021 1759 2554 3778	Homo sapiens (human)	Alliance of Genome Resources

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