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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 **9851 - 9875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0090044	dystonia 9	Slc2a1	20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080432	developmental and epileptic encephalopathy 60 Aliases: DEE60 early infantile epileptic encephalopathy 60	Cnpy3	72029	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:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	Ppp1cb	19046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:790	ocular hypotension Aliases: Hypotony of eye	Ace	11421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050880	Koolen de Vries syndrome Aliases: 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome	Kansl1	76719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080975	intracranial berry aneurysm 12	Thsd1	56229	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070143	autosomal recessive cutis laxa type III Aliases: De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070073	autosomal dominant intellectual developmental disorder 43 Aliases: MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43	Hivep2	15273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5199	ureteral obstruction	Abl1 Ace Adamts1 Akt1 Avpr2 Casp9 Ccl11 Cfl1 Col1a1 Col1a2 Drd1 Fn1 Gjb6 Hspa5 Icam1 Ifng Il1rn Irf5 Lum Mtor Pak2 Pdgfb Skil Tnf Tnfrsf1a Tnfrsf1b	11350 11421 11504 11651 12000 12371 12631 12842 12843 13488 14268 14623 14828 15894 15978 16181 17022 18591 20292 20482 21926 21937 21938 224105 27056 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080052	acromesomelic dysplasia, Grebe type Aliases: acromesomelic dysplasia-2A grebe chondrodysplasia	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9271	ornithine carbamoyltransferase deficiency Aliases: deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency	Igfbp3	16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:447	renal tubular transport disease Aliases: inborn renal tubular transport disorder	Clcn5	12728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	Atp2a2	11938	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:607	paraplegia Aliases: Paraplegia, lower	Akt1 Atg7	11651 74244	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110646	long QT syndrome 3 Aliases: LQT3	Scn5a	20271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070336	arthrogryposis multiplex congenita-6	Neb	17996	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	Crtap	56693	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	Abca1	11303	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:251	alcohol-induced mental disorder	Ankk1 Drd2 Gsr	13489 14782 244859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	Psap Psapl1 Slc7a3 Srebf1 Srebf2	11989 19156 20787 20788 76943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2799	bronchiolitis obliterans Aliases: Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis	Ace Ccl2 Ccl7 Cd86 Csf2 Cxcl9 Foxp3 Gzmb Gzmd Gzme Gzmf Gzmg Il13 Il1rn Il4 Mbl2 Mmp9 Muc1 Nos3 Sftpd Tlr9	11421 12524 12981 14939 14941 14942 14943 14944 16163 16181 16189 17195 17329 17395 17829 18127 20296 20306 20371 20390 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050869	villous adenoma	Rnf43	207742	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8923	skin melanoma Aliases: cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	Aff4 Arhgap44 Ccl2 Cd40 Ddr1 Fanca Grm1 Icam1 Mmp1a Mmp2 Mmp9 Oca2 Stat3 Tyr	12305 14087 14816 15894 17390 17395 18431 20296 20848 216831 21939 22173 83995 93736	Mus musculus (house mouse)	Alliance of Genome Resources

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