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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 **6801 - 6825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070490	infantile parkinsonism-dystonia 2 Aliases: Brain dopamine-serotonin vesicular transport disease PKDYS2	Slc18a2	25549	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3144	cutis laxa Aliases: loose skin	Atp7a Fbln5 Ltbp1	24941 29158 59107	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	DAG1	1605	Homo sapiens (human)	Alliance of Genome Resources
DOID:11132	prostatic hypertrophy	daf-2 ver-1 ver-4	175182 175410 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111674	intellectual developmental disorder with short stature and behavioral abnormalities Aliases: IDDSSBA	SYT1	856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	nog1 nog3	30173 30174	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112040	non-syndromic X-linked intellectual disability 100 Aliases: MRX100 X-linked mental retardation 100	KIF4A	24137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080430	developmental and epileptic encephalopathy 65 Aliases: DEE65 early infantile epileptic encephalopathy 65	CYFIP2	26999	Homo sapiens (human)	Alliance of Genome Resources
DOID:12010	anterior ischemic optic neuropathy Aliases: Ischemic optic neuropathy	Nos3	24600	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hs3st6.L hs3st6.S	108701670 108703226	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	rhoaa rhoab rhoac rhocb	100006041 406411 406659 436718	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080437	developmental and epileptic encephalopathy 31A Aliases: DEE31 DEE31A developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy 31	Dnm1	140694	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1	100158594	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4783	mesangial proliferative glomerulonephritis	fgfr1a	30705	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	Akt2	25233	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2942	bronchiolitis	Ccl11 Crp Il1rn	25419 29397 60582	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050865	tongue squamous cell carcinoma	Egfr Jra	36057 37455	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	alg13.L	108698403	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD2 CHD6 CHD7 CHD8 CHD9 SEMA3E TP53	1106 55636 57680 7157 80205 84181 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	Abcb1a Abcb1b Akt1 Angpt1 Anxa7 Apob Bard1 Calr Cd59a Cd59b Cd82 Cd9 Cdh13 Cdh1 Chi3l1 Comt Crkl Ctnnb1 Ddr1 Eef1a2 Efemp2 Egf Erbb2 Esr1 F2 F7 Fanca Fas Fgf7 Hfe Icam1 Il10 Itga8 Jup Klk4 Mbl2 Met Mmp1a Mmp8 Msh6 Msln Myo6 Nasp Nos3 Ogg1 Opcml Pecam1 Pik3ca Prss8 Ptgs1 Rassf1 Serpinc1 Shmt1 Slco1b2 Smad2 Smad4 Sod2 Spint1 Stat3 Tbx3 Tfrc Timp1 Tnf Tnfrsf1a Tnfrsf1b Tymp Ugt1a1 Vegfc Wwtr1 Yap1	11600 11651 11750 11905 12021 12305 12317 12387 12509 12521 12527 12550 12554 12654 12846 12929 13628 13645 13866 13982 14061 14068 14087 14102 14178 15216 15894 16153 16480 17126 17128 17195 17295 17394 17688 17920 18127 18294 18613 18669 18671 18706 19224 20425 20656 20732 20848 21386 21857 21926 21937 21938 22042 22341 22601 238055 241226 28253 330908 333883 394436 50927 56047 56289 56640 58859 72962 76560 83995 97064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050993	episodic ataxia type 5	Cacnb4	12298	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ACE ACHE ADIPOQ ADRB1 AGER ALDH2 AOC3 APOA1 APOA2 APOB APOC3 APOE APOM AVP BCHE BTC C3 CASP9 CBL CCL11 CCL2 CCL5 CCR2 CCR5 CD14 CD28 CD38 CD40 CD40LG CD80 CD86 CEL CFB CHI3L1 CLEC16A CP CTLA4 CYP27B1 CYP2E1 CYP2R1 DOCK8 E2F1 EDN1 EGFR EIF2AK3 F7 FADS2 FAS FASLG FUCA1 G6PC2 G6PD GAD2 GAL GC GH2 GHR GPX3 HDAC1 HDAC2 HDAC3 HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HNF1A HP HPR HSD11B2 ICAM1 IFNG IFNGR2 IGF2 IGF2R IGFBP3 IL10 IL15 IL1A IL1R1 IL1RN IL2 IL2RA IL4 IL6 INS IRAK3 ITPR3 LGALS3 LIPC LTA MBL2 NCAM1 NOS2 NOTCH4 PDX1 PLAT PON1 PRF1 PRRC2A PRSS1 PTPRN2 PTPRN REG1A SELE SELL SENP1 SERPINA7 SERPINF1 SLC11A1 SLC18A2 SOD1 SOD2 SREBF2 STAT4 TAP1 TBP TF TGFB1 THBD TIMP1 TLR2 TLR3 TLR4 TNF TNFSF4 UGT1A1 VAV1 VCAM1 VWF WFS1 XYLT1 YY1	1056 1116 11213 120227 1234 1356 1493 153 1571 1594 1636 177 1869 1906 1956 2155 217 23274 2517 2539 2572 2638 2689 2690 2878 29843 3065 3066 3113 3115 3117 3119 3123 3240 3250 3291 335 336 338 3383 345 3458 3460 348 3481 3482 3486 355 3552 3554 3557 3558 3559 356 3565 3569 3586 3600 3630 3651 3710 3958 3990 4049 4153 43 4684 4843 4855 51083 5176 5327 5444 54658 551 5551 55937 5644 57818 5798 5799 590 5967 629 6347 6352 6356 6401 6402 64131 6556 6571 6647 6648 6721 6775 685 6890 6906 6908 6927 7018 7040 7056 7076 7097 7098 7099 7124 718 7292 729230 7409 7412 7450 7466 7528 7916 81704 842 8639 867 8841 929 9370 940 941 9415 942 9451 952 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060040	pervasive developmental disorder Aliases: Pervasive Child Development Disorders pervasive development disorder	Drd4 Drd5	13491 13492	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ASAH1 SPNS1 SPNS2	124976 427 83985	Homo sapiens (human)	Alliance of Genome Resources

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