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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 **12176 - 12200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	Cad99C	43528	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:161	keratosis	CAT MPO	4353 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080739	Ehlers-Danlos syndrome spondylodysplastic type 3	Zip99C	43533	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9220	central sleep apnea Aliases: primary central sleep apnea	TkR99D	43551	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	TkR99D	43551	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	TkR99D	43551	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14004	thoracic aortic aneurysm	Tace	43558	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	43563	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050567	orofacial cleft	Axn	43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050912	colon adenoma	Axn	43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9655	oral mucosa leukoplakia	Axn	43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Axn	43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	Tpi	43582	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110158	Charcot-Marie-Tooth disease type 2I Aliases: CMT2I Charcot-Marie-Tooth neuropathy type 2I	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081384	ataxia-telangiectasia-like disorder-1	MRE11	4361	Homo sapiens (human)	Alliance of Genome Resources
DOID:4137	common bile duct disease	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050432	Asperger syndrome	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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