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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 **3951 - 3975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080253	Meckel syndrome 13	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:2566	corneal dystrophy	kera	567017	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	Abca4 Bad Bax Bmp4 C2 C3 Cacng3 Ccl2 Cd36 Cfb Cfh Cfhr4 Cfi Cryab Efemp1 Esr1 Fas Gsr Hspa8 Il17a Kdr Mmp2 Mmp9 Nfe2l2 Pon1 Ppargc1a Prph2 Serpinf1 Serping1 Sod1 Srsf10 Tlr4	11304 12015 12028 12159 12258 12263 12266 12491 12628 12630 12955 13982 14102 14105 14782 14962 15481 16171 16542 17390 17395 18024 18979 19017 19133 20296 20317 20655 214403 216616 21898 54376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111847	osteogenesis imperfecta type 19 Aliases: OI19 osteogenesis imperfecta type XIX	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090052	dystonia 24	ANO3	63982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080021	Schmid metaphyseal chondrodysplasia Aliases: Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia	COL10A1	1300	Homo sapiens (human)	Alliance of Genome Resources
DOID:3905	lung carcinoma Aliases: cancer of lung	Acer Ance nAChRalpha2 nAChRbeta2	34189 34805 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060131	alexithymia	SerT	37895	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	dat-1 tbh-1	176304 181639	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	ACVR1 ACVRL1 BMP4	652 90 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	Scn4a	25722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3007	breast ductal carcinoma Aliases: duct carcinoma	Bsg	318841	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111089	Fanconi anemia complementation group D1 Aliases: FAD1 FANCD1	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050598	extrapulmonary tuberculosis	Ereg	59325	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112081	nuclear type mitochondrial complex I deficiency 8 Aliases: MC1DN8	NDUFS3	4722	Homo sapiens (human)	Alliance of Genome Resources
DOID:8719	in situ carcinoma	Akt1 Alpl Angpt1 Ctnnb1 Esr1 Esr2 Pdgfra Pdpn Ptgs2	24185 24890 25149 25267 25586 29527 54320 84353 89807	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	famk-1	181616	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	ins	30262	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080432	developmental and epileptic encephalopathy 60 Aliases: DEE60 early infantile epileptic encephalopathy 60	CNPY3	10695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111650	ectodermal dysplasia 13 Aliases: ECTD13 ectodermal dysplasia 13, hair/tooth type	Kremen1	84035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	APL6	853177	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	cwn-2	177870	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	IGSF1	3547	Homo sapiens (human)	Alliance of Genome Resources

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