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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 **11276 - 11300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	drpr	38218	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112045	non-syndromic X-linked intellectual disability 93 Aliases: MRX93 X-linked mental retardation 93 X-linked mental retardation with macrocephaly	Brwd3	382236	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	Cdkl5	382253	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112265	iminoglycinuria	acs path	38264 39106	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	KNG1	3827	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	oxt	38288	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	oxt	38288	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Aliases: chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome	KIF11	3832	Homo sapiens (human)	Alliance of Genome Resources
DOID:874	bacterial pneumonia Aliases: Pneumonia due to other gram-negative bacteria gram-negative pneumonia	Pxn mys	38326 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9362	status asthmaticus Aliases: Asthma with status asthmaticus Severe asthma attack	Pxn	38326	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080612	anterior segment dysgenesis 7	Pxn	38326	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	Pxn	38326	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9415	allergic asthma Aliases: extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus	Pxn	38326	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:161	keratosis	Pxn	38326	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080162	lupus nephritis	Pxn	38326	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2 Aliases: SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type	KIF22	3835	Homo sapiens (human)	Alliance of Genome Resources
DOID:9428	intracranial hypertension Aliases: Raised intracranial pressure	Shab	38352	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080461	developmental and epileptic encephalopathy 26 Aliases: DEE26 early infantile epileptic encephalopathy 26	Shab	38352	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081022	retinal cone dystrophy 3B Aliases: cone dystrophy with supernormal rod responses	Shab	38352	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	CPT2	38355	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	promL	38372	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110376	retinitis pigmentosa 41 Aliases: RP41	promL	38372	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111019	cone-rod dystrophy 12 Aliases: CORD12	promL	38372	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	Alg2	38374	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	Alg2	38374	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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