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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 **14001 - 14025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	Acvrl1 Bmp10 Eng Gdf2 Smad4 Tgfb1 Tnf	11482 12154 12165 13805 17128 21803 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6432	pulmonary hypertension	Ace2 Acvrl1 Ager Agtr1a Agtr1b Angpt1 Angpt2 Atp2a2 Atp5f1a Atp5pf Bdkrb2 Bmpr1a Bmpr2 Casr Cavin1 Ccdc80 Ccl2 Cd209a Cd209b Cd209c Cd209d Cd28 Cd40 Cd40lg Cd86 Cdh5 Clu Col1a1 Col4a1 Csf3 Ctnnd1 Cxcr4 Cybb Cyp1a1 Cysltr1 Ece1 Ednra Ednrb Egfr Egr1 Ephx2 Epo Esr1 Esr2 F5 Fgfr1 Gata4 Gja1 Gpr182 Has1 Has2 Has3 Hdac1 Hdac4 Hk1 Hmgb1 Hmgcr Hp Hyal1 Hyal2 Icam1 Ifngr1 Il10 Il13 Il13ra1 Il13ra2 Il1rn Il23r Kcna5 Kcnk3 Lcn2 Mmp1a Mmp9 Mtor Myc Nampt Nfatc2 Nos3 Nox1 Pdgfa Pdgfb Pdia3 Pecam1 Pgf Ptgs2 Ramp2 Rela Ryr1 Ryr2 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Slc2a4 Slc6a4 Slc8a1 Smad4 Tacr1 Tacr2 Tek Tgfb1 Tgfbr1 Tgfbr2 Thbd Thpo Tnc Tnf Trp53bp1 Trpc3 Trpc6 Trpv4 Vcam1 Vim Vip Vwf	11482 11536 11596 11600 11601 11607 11608 11938 11946 11957 12062 12166 12168 12374 12388 12487 12524 12562 12759 12767 12826 12842 12985 13058 13076 13617 13618 13649 13653 13850 13856 13982 13983 14067 14182 14463 14609 14827 15116 15117 15118 15275 15289 15357 15439 15567 15586 15587 15894 15979 16153 16163 16164 16165 16181 16493 16527 16819 170776 170779 170786 17128 17395 17869 18019 18127 18590 18591 18613 18654 19225 19285 19697 20190 20191 20296 20528 20541 20700 20701 20702 20703 20704 208727 209590 21336 21337 21687 21803 21812 21813 21824 21832 21923 21926 21939 21947 22065 22068 22329 22352 22353 22371 230857 237038 27223 433759 54409 56717 58861 59027 63873 67896 69165 70008 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060856	right atrial isomerism Aliases: Ivemark syndrome asplenia with cardiovascular anomalies	Acvr2b Cfc1 Zic3	11481 12627 22773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	Acvr2a Tfrc	11480 22042	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	Acvr2a Acvr2b Bmp2 Bmp4 Bmpr1a Hivep2 Hivep3 Smad4	11480 11481 12156 12159 12166 15273 16656 17128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	Acvr2a Acvr2b Bmp2 Bmp4 Bmp5 Bmp6 Bmp7 Bmp8b Fbn1 Matn4 Mmp12 Mmp2 Tgfbr2	11480 11481 12156 12159 12160 12161 12162 12164 14118 17183 17381 17390 21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050587	trichotillomania	SLITRK1	114798	Homo sapiens (human)	Alliance of Genome Resources
DOID:1790	malignant mesothelioma Aliases: Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium	Acvr1b Mcam Setd2	11479 235626 84004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	Acvr1 Col4a2 Erap1 Lnpep Rbp4	11477 12827 19662 240028 80898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	Acvr1 Col18a1 Myrf	11477 12822 225908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13641	exfoliation syndrome Aliases: Pseudoexfoliation glaucoma Pseudoexfoliation syndrome	Acvr1 Clu Pon1 Sod2 Stra6 Tlr4	11477 12759 18979 20656 20897 21898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	Acvr1 Acvrl1 Bmp4	11477 11482 12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	Acta2 Foxc2 Pgf	11475 14234 18654	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:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	Supt16	114741	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081342	congenital myopathy 8	Actn2	11472	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	Actn2	11472	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	Actn2 Cdh2 Des Dsc1 Dsc2 Dsc3 Dsg2 Gja1 Il6ra Jup Lmna Pkp2 Ryr2 Scn5a Tgfb3	11472 12558 13346 13505 13506 13507 13511 14609 16194 16480 16905 20191 20271 21809 67451	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070484	Legius syndrome Aliases: LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome	Spred1	114715	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	Gne	114711	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3659	sialuria	Gne Slc17a5	114711 363103	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	Actb Ccl2 F7 Fcgr2a Fcgr2al1 Fcgr2b Gne Il10 Itgb3 Tbxa2r Thpol1 Tnf	114711 116591 24770 24816 24835 25325 260320 289211 29302 498276 81811 81822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	Actl7a Kdm6a	11470 22289	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12336	male infertility	Actl7a Adamts16 Bscl2 Csnk2a2 Fas Kit	11470 13000 14102 14705 16590 271127	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060647	fetal encasement syndrome Aliases: cocoon syndrome	CHUK	1147	Homo sapiens (human)	Alliance of Genome Resources

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