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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 **1351 - 1375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	EDA EDAR	10913 1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111665	ectodermal dysplasia 10B Aliases: ECTD10B ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111663	ectodermal dysplasia 10A Aliases: ECTD10A ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	Chd6 Chd8 Chd9 Sema3e Trp53	109151 20349 22059 67772 71389	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110147	Bartter disease type 5 Aliases: BARTS5 Bartter syndrome, type 5, antenatal, transient	MAGED2	10916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110791	hereditary spastic paraplegia 3A Aliases: FSP1 SPG3A autosomal dominant familial spastic paraplegia 1 autosomal dominant spastic paraplegia 3 autosomal dominant spastic paraplegia type 3 strumpell disease	Atl3	109168	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070154	hereditary sensory neuropathy type 1F Aliases: HSN1F hereditary sensory neuropathy type IF	Atl3	109168	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	AKT1 APOA1 BRD4 DDR1 EHMT2 EP300 F3 FGFR2 FOSL2 HLA-DRB1 IL1RL1 IL2RA MMP1 MMP3 MUC1 MUC5B NTRK2 PARP1 PTGS2 SETD2 SFTPA2 SMAD6 STAT3 TERT TFPI THBD TNF	10919 142 2033 207 2152 2263 23476 2355 29072 3123 335 3559 4091 4312 4314 4582 4915 5743 6774 7015 7035 7056 7124 727897 729238 780 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:986	alopecia areata Aliases: Circumscribed alopecia	CTLA4 DNMT1 EHMT2 HDAC1 HDAC2 HDAC7 HLA-DQA1 HLA-DQB1 IL1RN IL2 KDM1A KDM4C NOTCH4	10919 1493 1786 23028 23081 3065 3066 3117 3119 3557 3558 4855 51564	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060352	Kleefstra syndrome 1 Aliases: 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome	EHMT1 EHMT2	10919 79813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050873	follicular lymphoma	Atp6v1b2 Cd40 Cd40lg Cd79b Rarres1 Rragc Rragd	109222 11966 15985 21939 21947 52187 54170	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:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	Abcc9 Actc1 Adrb1 Adrb2 Agtr1a Agtr2 Bag3 Bax Cacnb4 Cap2 Casp9 Cd40 Cdk8 Col15a1 Col18a1 Cs Csl Ctsl Cxcr3 Cyp1a1 Cyp2c29 Dag1 Des Dll1 Dll4 Dmd Dner Dnm1l Dsc2 Dsg2 Ece1 Eef1a1 Eef1a2 Egfr Emd Erbb2 Esrrb Eya4 Fas Fkrp Flii Flnc Gdf1 Get3 Gja1 Gpx1 H2-Ab1 Hfe Hp Icam1 Icam2 Il10 Il13ra2 Jag1 Jag2 Ldb3 Lepr Lmna Ltbp2 Map3k7 Mas1 Med1 Mmp1a Mmp2 Mrgprd Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b Nr2f2 Orai1 Pdcd1 Pdlim5 Phc1 Ppargc1a Ppp3ca Prkcb Ptger4 Ptpn11 Rbfox1 Rbp4 Rps6kb1 Rtf1 Rxra Snai1 Sod2 Srf Stim1 Stim2 Tbx20 Tcam1 Timp3 Tnf Tnni3 Trdn Trp53 Ttn Vcl Vezf1	109305 11464 11554 11555 11607 11609 116873 11819 12028 12298 12371 12766 12819 12822 12974 13039 13076 13095 13138 13346 13388 13405 13506 13511 13619 13627 13628 13649 13726 13866 14051 140781 14102 14248 14559 14609 14775 14961 15216 15439 15894 15896 16153 16165 16449 16450 16847 16905 16997 17171 17390 17879 17882 17883 17884 17888 18566 18751 19014 19017 19055 19219 19247 19662 20181 20613 20656 20807 20866 20928 211578 21859 21926 21939 21954 22059 22138 22330 22344 227325 230857 24131 243853 26380 264064 26409 268859 29810 544791 54485 56376 56495 57246 668940 67252 68794 71832 72508 74006 75870 76246 76757 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111976	immunodeficiency 9 Aliases: CID due to ORAI1 deficiency IMD9 combined immunodeficiency due to ORAI1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 1	Orai1	109305	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080686	tubular aggregate myopathy 2	Orai1	109305	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080962	anauxetic dysplasia 2	POP1	10940	Homo sapiens (human)	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	ABCA13 ALX4 AMIGO2 APOC3 ARID1A CAT CD44 CDK12 GPX1 HLA-DQA1 HNRNPA0 IL6 KMT2D MAP2K4 MAPK14 PLCE1 POLE PTPN13 PTPRA PTPRZ1 RAC1 RNASET2 RNF43 SLC7A5 STAT1 STAT5A STAT5B STAT6 TP53 UBR5 XPO1	10949 1432 154664 2876 3117 345 347902 3569 51196 51366 51755 5426 54894 5783 5786 5803 5879 60529 6416 6772 6776 6777 6778 7157 7514 8085 8140 8289 847 8635 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	Ank2 C4b Ccl2 Cntnap2 Gabra2 Gabra4 Gabra5 Gabrb1 Gabrb2 Gabrr2 Grm8 Grn H2-Eb1 Hspd1 Kcnq3 Kmt2e Lamb1 Mecp2 Met Nf1 Nlgn1 Nlgn3 Ntrk2 Pecam1 Ptchd1 Rapgef4 Reln Shank2 Slc6a4 Slc9a9 Tnf Vldlr	109676 110862 110886 12268 14395 14397 14400 14401 14409 14823 14824 14969 15510 15567 16777 17257 17295 18015 18212 18613 192167 19699 20296 210274 211612 21926 22359 245537 331004 56508 66797 69188	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	Ank2 Kcne1 Kcne2 Kcnh2 Kcnh7 Kcnq1 Kcnq2 Kcnq3 Scn5a	109676 110862 16509 16511 16535 16536 170738 20271 246133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	Ace Ager Agtr1a Agtr1b Agxt2 Ank2 Cd36 Cd40 Flt1 Gja1 Gp6 Hgf Il2 Itgam Kcne1 Kcne2 Kcnq1 Mmp1a Mmp2 Mmp9 Ren1 Robo1 Slc8a1 Slit2 Sod1 Tfpi Tgfb1 Tlr2 Tnf Ttn Vegfa Vwf	109676 11421 11596 11607 11608 12491 14254 14609 15234 16183 16409 16509 16535 17390 17395 19701 19876 20541 20563 20655 21788 21803 21926 21939 22138 22339 22371 24088 243816 246133 268782 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	Acvrl1 Adamts1 Adamts4 Ager Aifm1 Ank2 Aqp4 Atf2 Atp5f1b Bace1 Bax Bnip3 C3 Camk2a Casp9 Cbl Ccl2 Ccr6 Csf3 Dbn1 Dll4 Eif2s1 Elane Elk1 Entpd1 Ep300 Epo Esr1 Esr2 F11r F12 Fas Fgfr1 Fgfr2 Fto G6pd2 G6pdx Gad1 Ghsr Gja1 Gjb6 Glul Got1 Grin2a Grin2b Gsr Havcr2 Hrh2 Hsf1 Hspa5 Hspa8 Hspb1 Icam1 Ifnb1 Ikbkb Il10 Il1rn Itgb3 Itpr1 Kcnk2 Klf5 Lcn2 Lmna Lpar1 Ltbp1 Madd Map2k4 Mbp Mecp2 Mff Mmp2 Mmp9 Mtor Myb Nampt Nefh Nefl Nefm Nf1 Nfkb1 Ngfr Nos3 Notch1 Nox1 Nrp1 Nrxn1 Ogg1 Pcna Plat Plxnd1 Pparg Ptafr Ptger4 Ptpn13 Ptpn5 Rack1 Robo1 Robo2 Rps6 Sema3e Serpinf1 Sin3a Sirt6 Slc12a2 Slc17a6 Slc17a7 Slc17a8 Slit2 Sod1 Sod2 Stat3 Tfpi Tnf Tnfrsf1a Trpc6 Ucp2 Vwf Wnk1 Wnk2 Wnk4	109676 11482 11504 11596 11829 11909 11947 12028 12176 12224 12266 12322 12371 12402 12458 12495 12985 13665 13712 13856 13982 13983 140919 14102 14182 14183 14380 14381 14415 14609 14623 14645 14694 14718 14745 14782 14811 14812 14828 15466 15481 15499 15507 15894 15977 16150 16153 16181 16416 16438 16456 16526 16819 16905 171285 17196 17257 17390 17395 17863 18015 18033 18039 18040 18053 18127 18128 18186 18189 18294 18538 18791 19016 19204 19219 19249 19259 19876 20104 20296 20317 20349 20466 20496 20563 20655 20656 208188 20848 216227 21788 21926 21937 22068 22228 22371 228355 232341 237038 23821 240913 26383 26398 268902 268977 26926 328572 380684 50701 50721 54485 56320 56717 58992 59027 67784 69847 72961 75607 75734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13884	sick sinus syndrome Aliases: sinus node infection	Ank2 Hcn1 Hcn4 Myh6 Scn5a	109676 15165 17888 20271 330953	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050824	sinoatrial node disease Aliases: SA node sinuatrial node	Ank2	109676	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111700	ankyrin-B-related cardiac arrhythmia Aliases: ankyrin-B syndrome	Ank2	109676	Mus musculus (house mouse)	Alliance of Genome Resources

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