GlyCosmos Portal

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

Displaying entries **7426 - 7450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	Slc34a1	20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	Fas Fasl	14102 14103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080991	congenital myopathy 1B Aliases: multiminicore disease	Ryr1	20190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050185	erythema multiforme	Cd40 Cd40lg Cd8a H2-Ab1 Vegfa	12525 14961 21939 21947 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112000	immunodeficiency 34 Aliases: AMCBX2 IMD34 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency familial atypical mycobacteriosis X-linked 2 immunodeficiency 34, mycobacteriosis, X-linked	Cybb	13058	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111190	distal myopathy 4 Aliases: MPD4 distal ABD-filaminopathy distal muscular dystrophy 4 distal myopathy with posterior leg and anterior hand involvement	Flnb Flnc	286940 68794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	Lipa	16889	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112372	Coffin-Siris syndrome 11 Aliases: CSS11	Smarcd1	83797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	Abcb1a Abcb1b Adipoq Alpi Alppl2 Bpi Cd40 Chrna7 Col6a3 Esr2 F13a1 F2 Fcgr2b Fcgr3 Fcgr4 Fga Fgf7 Gc Gpx1 H2-Ab1 Hfe Icam1 Ifng Il10 Il21r Il23r Kdr Mbl2 Mki67 Pgf Plaur Pon1 Pon3 Prf1 Ptgs2 Sell Slc11a1 Slc22a21 Slc22a5 Stat3 Thbd Tnf Tnfrsf1a Tnfrsf1b Ugt1a1 Vegfa Vipr1	11441 11450 11650 12835 13983 14061 14130 14131 14161 14178 14473 14775 14961 15216 15894 15978 16153 16542 17195 17345 18173 18646 18654 18669 18671 18793 18979 19225 20343 20520 20848 209590 21824 21926 21937 21938 21939 22339 22354 246256 269823 329547 394436 56517 60504 74145 76768	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050083	Keshan disease	Cyp1a1 Cyp2c29 Gpx1	13076 13095 14775	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070486	Parkinson's disease 25 Aliases: PARK25 autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development	Ptpa	110854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	Adh1 Atxn2 Eif4g1 Gba1 H2-Ea Mapt Pmpcb Psap Uqcrc1	100504404 11522 14466 17762 19156 20239 208643 22273 73078	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	Fos Pik3ca Pik3cb Pmepa1	14281 18706 65112 74769	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4377	egg allergy Aliases: Allergy to eggs	Grin2b Il13	14812 16163	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	Ctsb Glud1	13030 14661	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080286	spinocerebellar ataxia 44	Grm1	14816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3869	childhood medulloblastoma Aliases: pediatric Medulloblastoma	Ddx3y	26900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1222	cartilage disease Aliases: Cartilage disorder Chondropathy	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110454	dilated cardiomyopathy 1S Aliases: CMD1S	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050592	asphyxiating thoracic dystrophy Aliases: Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy	4933427D14Rik Dync2h1	110350 74477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070394	developmental and epileptic encephalopathy 108 Aliases: DEE108 early infantile epileptic encephalopathy 108	Mast3	546071	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081224	autosomal recessive intellectual developmental disorder 63	Camk2a	12322	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060564	spinal disease	Flnb Penk Tsc1	18619 286940 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1558	angioedema Aliases: Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria	F12 Serping1	12258 58992	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources

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