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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 **4626 - 4650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	Gdnf	14573	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	Asxl1 Csf3r Ezh2 Kdm6a Tet2	12986 14056 214133 22289 228790	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13001	carotid stenosis Aliases: Carotid artery stenosis Stenosis, carotid artery	Cnp F2 Il4 Mmp1a Pla2g7 Procr Tlr2 Tlr4 Vcam1	12799 14061 16189 19124 21898 22329 24088 27226 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050680	Boomerang dysplasia	Flnb	286940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	Cln5	211286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C Aliases: DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type	Sgcg	24053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110856	posterior polymorphous corneal dystrophy 2 Aliases: Ppcd2	Col8a2	329941	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	Reep6	70335	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	Gucy2e	14919	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112214	developmental and epileptic encephalopathy 78 Aliases: DEE78 early infantile epileptic encephalopathy 78	Gabra2	14395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12510	retinal ischemia	Mmp9 Ptger4 Thy1 Vegfa	17395 19219 21838 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111888	Diamond-Blackfan anemia 10 Aliases: DBA10 RPS26-related Diamond-Blackfan anemia	Rps26	27370	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1936	atherosclerosis	Add1 Adipoq Ager Casr Cd36 Cd40 Cd40lg Clu Col4a2 Cpe Csf1 Dab2ip F2 Fas Fcgr2b Fcgr3 Grn Hmgb1 Hnrnpc Hp Hspa1a Itgam Ldlr Mmp1a Mmp2 Ngf Ngfr Nono Nos3 Pdgfd Pecam1 Pla2g7 Pltp Pon1 Pon3 Ptges3 Rbp4 Selp Stat3 Stau1 Vim Wiz	11450 11518 11596 12374 12491 12759 12827 12876 12977 14061 14102 14130 14131 14824 15289 15381 15439 16409 16835 17390 18049 18053 18127 18613 18830 18979 193740 19662 20344 20848 20853 21939 21947 22352 22404 269823 27226 53610 56351 69601 71785 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110007	achromatopsia 2 Aliases: ACHM2 RMCH2 rod monochromacy 2 rod monochromatism 2	Cnga3	12790	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050946	Charlevoix-Saguenay spastic ataxia	Sacs	50720	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	Serpina6	12401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	Cd40	21939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	Pth1r	19228	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	Il1r1 Il1rn	16177 16181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:799	varicose veins Aliases: Varix Venous ectasia Venous varices varices	Dll4 Efnb2 Lum Mmp1a Mmp9 Pecam1 Vim	13642 17022 17395 18613 22352 54485 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111502	combined oxidative phosphorylation deficiency 6 Aliases: COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy	Aifm1	26926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2566	corneal dystrophy	Elovl4 Kera Tacstd2	16545 56753 83603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	F3 Kmt2e Myc Ncam1 Plat Pml Senp7	14066 17869 17967 18791 18854 66315 69188	Mus musculus (house mouse)	Alliance of Genome Resources

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