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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 **2726 - 2750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	Slc26a5	83819	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	abt-2 cpi-1 piga-1	171782 174386 177372	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	fkrp.L	108698503	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	ppt-1	191744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	B2M CD70 FAS KIR3DS1 KLRK1 NCR1 SLC11A1 STAT3	22914 355 3813 567 6556 6774 9437 970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	Bcl9 Bcl9l	77578 80288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110315	hypertrophic cardiomyopathy 9 Aliases: CMH9 cardiomyopathy, familial hypertrophic, 9	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	Adra2a Lmna Pparg	11551 16905 19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111776	46,XY sex reversal 5 Aliases: 46,XY gonadal dysgenesis, complete, CBX2-related 46,XY sex reversal, CBX2-related SRXY5 disorder of sex development, 46,XY, CBX2-related sex reversal, XY, CBX2-related	CBX2	84733	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:114	heart disease	cri-2 fbn-1	176076 179197	Caenorhabditis elegans	Alliance of Genome Resources
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	cacna1aa cacna1ab cacna1ba	555941 562059 569528	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111956	immunodeficiency 27B Aliases: IMD27B autosomal dominant IFNGR1 deficiency autosomal dominant MSMD due to partial IFNgammaR1 deficiency autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency autosomal dominant immunodeficiency 27B, mycobacteriosis autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	IFNGR1	3459	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	Chrne	11448	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	apl-1 ced-1 deg-1 eat-4 glr-1 glt-3 glt-4 mec-4 pkc-2 poml-1 ptc-1 ptc-3 tir-1 vglu-2 vglu-3	173064 173631 174274 175502 176204 176291 176441 176442 177882 180783 181035 181166 181728 187297 188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	Actn2 Cdh2 Des Dsc1 Dsc2 Dsc3 Dsg2 Gja1 Il6ra Jup Lmna Pkp2 Ryr2 Scn5a Tgfb3	11472 12558 13346 13505 13506 13507 13511 14609 16194 16480 16905 20191 20271 21809 67451	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050920	tonsil squamous cell carcinoma	btl htl	39564 42160	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:1324	lung cancer	Ace Cdkn1b Cftr Chrna7 Chrnb4 Clptm1l Comt Ctnnb1 Cyp1a1 Dagla Faslg Fgf9 Hp Hs3st2 Idh2 Il1r2 Mef2d Myc Pik3ca Ptgs2 Robo1 Sftpb Slco1b2 Sod2 Stim1 Tnc Ttr	116640 117022 170911 192155 24255 24267 24296 24310 24464 24577 24787 24856 25103 25302 25385 25444 293451 29527 309207 316916 361596 361618 58946 58978 81518 83571 84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	wnt11	100158655	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:12117	pulmonary alveolar microlithiasis	Slc34a2	20531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:255	hemangioma	Mmp2 Slc2a1	17390 20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4959	epidermolysis bullosa dystrophica Aliases: Dystrophic epidermolysis bullosa	COL7A1 IGFBP3 MMP1	1294 3486 4312	Homo sapiens (human)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	pon1	447803	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	prph2.S	398002	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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