GlyCosmos Portal

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

Displaying entries **10101 - 10125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	14629	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2977	primary hyperoxaluria	Grhpr	76238	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	Selenon	74777	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110813	hereditary spastic paraplegia 62 Aliases: SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62	Erlin1	226144	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050840	cervical dystonia Aliases: spasmodic torticollis	H2-Ab1	14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	Ecel1	13599	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	Abcb1a Abcb1b Abcg2 Drd2 Epha4 Ephx1 Igf1r Il10 Slc18a2	13489 13838 13849 16001 16153 18669 18671 214084 26357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	Stt3b	68292	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1596	depressive disorder Aliases: mental depression	Adra2a Bax Bdnf Chrm2 Chrna3 Chrnb3 Chrnb4 Crhbp Crhr1 Crhr2 Cyp1a2 Dbh Drd1 Drd2 Drd5 Esr2 Fos Gabra5 Gdnf Gpm6a Gpm6b Gpx1 Gsk3b Htr1a Htr2a Htr3b Il1rn Il6ra Jun L1cam Ncam1 Nefl Ngf Ngfr Npy1r Npy2r Nr3c1 Ntrk2 Oprk1 Panx1 Plp1 Ren1 Slc5a7 Slc6a2 Slc6a4 Snca Sncg Th Trem1 Xirp2	108015 108043 110834 110886 11551 12028 12064 12919 12921 12922 13077 13166 13488 13489 13492 13983 14281 14573 14758 14775 14815 15550 15558 15567 16181 16194 16476 16728 17967 18039 18049 18053 18166 18167 18212 18387 18823 19701 20538 20617 20618 21823 234267 241431 243764 55991 56637 57014 58217 63993	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12148	alveolar echinococcosis Aliases: Multilocular hydatid alveolococcosis small fox tapeworm	H2-Ab1 H2-Eb1 Tlr2	14961 14969 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	Adam17 Bdnf C3 Ccl28 Ccr5 Cd40 Cma1 Ctla4 Ctse F2 Fcgr2b Fcgr3 Havcr1 Hnmt Ifng Il13 Il13ra1 Il13ra2 Il17a Il21r Il25 Il2 Il4 Il4ra Il5 Mbl2 Ngf Ngfr Ntrk1 Selp Tgfb1 Timd2 Tlr2 Tlr4 Tnf Tnfaip6 Tslp	11491 12064 12266 12477 12774 13034 140483 14061 140806 14130 14131 15978 16163 16164 16165 16171 16183 16189 16190 16191 171283 171284 17195 17228 18049 18053 18211 20344 21803 21898 21926 21930 21939 24088 53603 56838 60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	Adrb2 Apob Ephx2 Ghr Gk Ldlr Mmp9 Pcsk9 Pon2 Rbp4	100102 11555 13850 14600 14933 16835 17395 19662 238055 330260	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110055	amelogenesis imperfecta type 3A Aliases: ADHCAI amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type III autosomal dominant amelogenesis imperfecta hypocalcification type	Fam83h	105732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	Ace Adamts13 Ager Anxa5 Bdnf C3 Ccl2 Ccr6 Cd86 Cfb Chi3l1 Clu Col1a1 Col3a1 Cp Csf1 Cxcl9 Cxcr3 Cxcr6 Esr1 F11r F2 Fbn1 Flt4 Fosl2 H2-Aa Hgf Hmgb1 Icam1 Ifng Igfbp3 Il13 Il17a Il1r1 Il23r Il27 Il27ra Il2 Il4 Jam3 Kdr Lta Mmp1a Mmp9 Muc1 Ngf Notch4 Pecam1 Pf4 Ptgs2 Rbp4 Selenop Serpinf2 Slc11a1 Tgfbr1 Vegfa Vwf	11421 11596 11747 12064 12266 12458 12524 12654 12759 12766 12825 12842 12870 12977 13982 14061 14118 14257 14284 14960 14962 15234 15289 15894 15978 16009 16163 16171 16177 16183 16189 16456 16542 16992 17329 17395 17829 18049 18132 18173 18613 18816 19225 19662 20296 20363 209590 21812 22339 22371 246779 279028 50931 56744 80901 83964 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070201	Miyoshi muscular dystrophy 3 Aliases: MMD3 Miyoshi myopathy 3	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110350	osteogenesis imperfecta type 6 Aliases: OI6 osteogenesis imperfecta type VI	Serpinf1	20317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080065	autosomal recessive spinocerebellar ataxia 19 Aliases: Lichtenstein-Knorr syndrome SCAR19	Slc9a1	20544	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	Ace2 Actb Adgrl4 Cd36 Cma1 Cox6b1 Cs Csl Ctsl Cyp1a1 Dnmt1 Ephx2 Htr2b Icam1 Igf1r Jph2 Kras Lamp2 Map3k7 Mmp1a Mmp2 Mmp9 Myh7 Myh7b Ndufa7 Orai1 Pkd1 Ptpn11 Slc25a4 Slc25a5 Stim1 Stim2 Tnni3 Vcl	109305 110323 11461 116873 11739 11740 12491 12974 13039 13076 13433 13850 140781 15559 15894 16001 16653 16784 170757 17228 17390 17395 18763 19247 20866 21954 22330 26409 59091 66416 668940 70008 71832 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	Abo Antxr1 Cfl1 Clptm1l Il10 Mtus1 Ptch1 Tgfa Tjp1 Tymp	102103 12631 16153 19206 21802 218335 21872 69538 72962 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13767	clonorchiasis Aliases: Oriental liver fluke disease	Fas Fasl	14102 14103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	Oxr1	170719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	Slc26a2	13521	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	Bub1 Lmnb1 Lmnb2 Ncapd3 Ncaph Pdcd6ip	12235 16906 16907 18571 215387 78658	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources

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