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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 **4776 - 4800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:11240	appendiceal neoplasm Aliases: appendix neoplasm neoplasm of appendix	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110383	retinitis pigmentosa 7 Aliases: RP7	prph2.S rom1.S	398001 398002	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:11151	cholecystolithiasis	PLA2G2A UGT1A1	5320 54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060352	Kleefstra syndrome 1 Aliases: 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome	Ehmt1	77683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3627	aortic aneurysm Aliases: ruptured aortic aneurysm	fbn-1 hda-4	176076 181723	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050649	atransferrinemia Aliases: familial hypotransferrinemia	Tf	24825	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10939	antisocial personality disorder Aliases: Asocial personality Dissocial personality disorder Psychopath.personality Psychopathic personality Psychopathic personality disorder sociopathic personality	STE6	853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	LGR5	8549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110106	atrial heart septal defect 1 Aliases: ASD1 atrial septal defect 1	Ntf3	18205	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	Tnni3	29248	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P Aliases: CMT2P Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth neuropathy type 2P	LRSAM1	90678	Homo sapiens (human)	Alliance of Genome Resources
DOID:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	Hfe Hspd1 Il10 Tgfb1	25325 29199 59086 63868	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1088	meningocele	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	EMI2 ERS1 GAC1 GIP2 GLK1 HXK1 HXK2	850317 850438 850614 852128 852639 854350 856781	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	abo.2 abo.3 abo.4 abo	100497509 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060366	Hennekam syndrome Aliases: Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome	ccbe1	555629	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	Gck Ins2	103988 16334	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111332	Pitt-Hopkins-like syndrome 2 Aliases: PTHSL2	Nrxn1	60391	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:6406	double outlet right ventricle Aliases: Dextrotransposition of aorta Double outlet right ventricle with subpulmonary ventricular septal defect Taussig-Bing syndrome or defect	Nep3	33005	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060298	complement component 4b deficiency	C4B	721	Homo sapiens (human)	Alliance of Genome Resources
DOID:8670	eating disorder	hda-4	181723	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110770	hereditary spastic paraplegia 17 Aliases: SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet	BSCL2	26580	Homo sapiens (human)	Alliance of Genome Resources
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	Itgb3	29302	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070501	mitochondrial complex IV deficiency nuclear type 16 Aliases: MC4DN16	Cox4i1	12857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050850	diabetic encephalopathy	Appl sgg	31002 31248	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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