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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 **11726 - 11750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	Gpr143 Tyr	18241 22173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	Cacng2	12300	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	Galk1	14635	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:440	neuromuscular disease	Gdnf Gpi1	14573 14751	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	Mfrp Myrf Nog	18121 225908 259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090144	Donnai-Barrow syndrome Aliases: DBS/FOAR syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness	Lrp2	14725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112206	developmental and epileptic encephalopathy 70 Aliases: DEE70 early infantile epileptic encephalopathy 70	Phactr1	218194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Gba1 Psap Tnf	14466 19156 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	Mme	17380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	Aurkb Braf Bsg Ccnb1 Cd82 Cdh13 Erap1 Fgf7 Gsk3b Jun Mmp8 Mmp9 Msh3 Ncoa1 Ncor2 Nos3 Pik3r1 Ptgs1 Rassf1 Smad4 Sparc Timp1 Trp53 Wnt2 Wnt4 Wnt5a	109880 12215 12521 12554 14178 16476 17128 17394 17395 17686 17977 18127 18708 19224 20602 20692 20877 21857 22059 22413 22417 22418 268697 56289 56637 80898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11563	retinal vasculitis	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3	110557 14964 14972 14990 15006 15007 15013 15015 15018 15043	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050168	autoimmune polyendocrine syndrome type 2 Aliases: Schmidt syndrome	H2-Aa H2-Ab1 H2-Eb1	14960 14961 14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	Slc25a10	27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	Sec23a Sec23b	20334 27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	Arid1a	93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080086	nonsyndromic congenital nail disorder 8 Aliases: isolated toenail dystrophy	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:543	dystonia Aliases: dystonic disease	Atp2b4 Bche Gnal Penk Tor1a Tor1b Tor2a Tor3a	12038 14680 18619 30931 30933 30934 30935 381290	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110182	Charcot-Marie-Tooth disease axonal type 2C Aliases: CMT2C Charcot-Marie-Tooth neuropathy type 2C HMSN2C autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C hereditary motor and sensory neuropathy type IIc	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080540	galactosialidosis	Ctsa	19025	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:10123	pigmentation disease	Herc2 Kitl Mc1r Mmp9 Oca2 Slc24a4 Slc45a2 Tpcn2 Tyr Tyrp1 a	15204 17199 17311 17395 18431 22173 22178 22293 233979 238384 50518	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080690	RASopathy Aliases: RAS/mitogen-activated protein kinase syndrome	Kras Map2k1 Rreb1	16653 26395 68750	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Acta2 Bax Cd209a Cd209b Cd209c Cd209d Cd36 Col1a1 Col3a1 Gapdh H2-Aa H2-Ab1 H2-Eb1 Inhba Mmp9 Snai1 Zeb2	11475 12028 12491 12825 12842 14433 14960 14961 14969 16323 170776 170779 170786 17395 20613 24136 69165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:150	disease of mental health	Cic Stx1a	20907 71722	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources

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