GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6651 - 6675** of **15957** in total

« First

‹ Prev

…

263

264

265

266

267

268

269

270

271

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	50786	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	Mfsd8	72175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	66789	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111541	pigmented paravenous chorioretinal atrophy Aliases: PPRCA	Crb1	170788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	Chga Dmbt1 L1cam Max Ret	12652 12945 16728 17187 19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070393	developmental and epileptic encephalopathy 107 Aliases: DEE107 early infantile epileptic encephalopathy 107	Napb	17957	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	B4gat1 Col4a1 Crppa Fkrp Fktn Pomgnt1 Pomt1 Pomt2 Rxylt1	108902 12826 216395 217734 243853 246179 68273 75847 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080115	mitochondrial complex III deficiency nuclear type 6	Cyc1	66445	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112074	nuclear type mitochondrial complex I deficiency 1 Aliases: MC1DN1	Ndufs4	17993	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	Plec	18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q Aliases: LGMD2Q autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency muscular dystrophy, limb-girdle, type 2Q	Plec	18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	Mef2c	17260	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	Ctns Lrp2 Slc34a1	14725 20505 83429	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	Kdr Vegfa	16542 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	Folr1	14275	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	Abca1 Abcb1a Abcb1b Abcg8 Adipoq Apob Bche Ccl2 Cd40lg F3 F7 Gfpt1 Hsd11b1 Hspa1a Itgam Kl Lcat Ldlr Lep Lipc Lpl Mmp9 Nos3 Rgn Sdc1 Serpinc1 Serpinf2 Smarcd1 Tfpi Tgfb1 Vcam1	11303 11450 11905 12038 14066 14068 14583 15450 15483 16409 16591 16816 16835 16846 16956 17395 18127 18669 18671 18816 193740 19733 20296 20969 21788 21803 21947 22329 238055 67470 83797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9975	cocaine dependence	Ankk1 Bdnf Chrna3 Chrnb3 Comt Drd2 Egr1 Fos Gabbr1 Gria1 Htr2a Htr2c Htr3a Lrrc7 Manea Ngf Oprd1 Oprk1 Oprm1 Per2 Sirt2 Tenm3	108043 110834 12064 12846 13489 13653 14281 14799 15558 15560 15561 18049 18386 18387 18390 18627 23965 242274 242362 244859 54393 64383	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080222	pseudohypoparathyroidism type IB	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11336	rhinoscleroma	H2-Aa H2-Ab1	14960 14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060058	lymphoma Aliases: lymphoid cancer	Chd4 Rela	107932 19697	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8791	breast carcinoma in situ Aliases: Non-Infiltrating carcinoma of breast carcinoma in situ of breast	Igf2r	16004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	Wdr45	54636	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Dot1l Lmna Lmnb1 Lmnb2	16905 16906 16907 208266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070072	autosomal dominant intellectual developmental disorder 42 Aliases: MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42	Gnb1	14688	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	Col2a1 Enpp1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Tnf	110557 12824 14964 14972 14990 15006 15007 15013 15015 15018 15043 18605 21926	Mus musculus (house mouse)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements