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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 **1901 - 1925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:8645	subacute delirium	ache	114549	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ACVR2A CA12 CA9 E2F4 KRAS MARCKS MLH1 MRE11 MSH2 MSH6 PMS1 RNASEL RNASET2 SLC22A9 SMAD4 TCF4 TGFBR1 TGFBR2	114571 1874 2956 3845 4082 4089 4292 4361 4436 5378 6041 6925 7046 7048 768 771 8635 92	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	MLH1 MSH2 MSH6 POLE RNASET2 SLC22A9 TGFBR2 TP53	114571 2956 4292 4436 5426 7048 7157 8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:14004	thoracic aortic aneurysm	Acta1 Acta2 Actb Actbl2 Actc1 Actg1 Adam10 Adam17 Col1a1 Col6a3 Cxcl9 Cxcr3 Lox Mfap5 Mmp12 Mmp1a Mmp2 Mmp8 Mmp9 Thsd4 Timp1 Timp3	11459 11461 11464 11465 11475 11487 11491 12766 12835 12842 16948 17329 17381 17390 17394 17395 207596 21857 21859 238880 50530 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10486	intestinal atresia	Acta1 Acta2 Actb Actbl2 Actc1 Actg1 Fgf10 Fgfr2	11459 11461 11464 11465 11475 14165 14183 238880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	Acta1 Acta2 Actb Actbl2 Actc1 Actg1 Tfap2b	11459 11461 11464 11465 11475 21419 238880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081112	Baraitser-Winter syndrome 1	Acta1 Acta2 Actb Actbl2 Actc1 Actg1	11459 11461 11464 11465 11475 238880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110550	autosomal dominant nonsyndromic deafness 20 Aliases: DFNA20 DFNA26 autosomal dominant deafness 20	Acta1 Acta2 Actb Actbl2 Actc1 Actg1	11459 11461 11464 11465 11475 238880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080685	aortic dissection	Acta1 Efemp2 Ephb1 Nono Spp1	11459 20750 270190 53610 58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081339	congenital myopathy 2B	Acta1	11459	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081340	congenital myopathy 2C	Acta1	11459	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110927	nemaline myopathy 3 Aliases: NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive	Acta1	11459	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	CHRNG	1146	Homo sapiens (human)	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	Actb Actc1 Neb	11461 11464 17996	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110317	hypertrophic cardiomyopathy 11 Aliases: CMH11 cardiomyopathy familial hypertrophic 11	Actb Actc1	11461 11464	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	Abcb1b Actb Add1 Aqp4 Avp Azgp1 Cacna1a Crhbp Cxcr4 Dbn1 Dlg4 Fos Gdnf Glud1 Glul Grik5 Grin2b Grm1 Hcn1 Kcna1 Map2 Mapt Mbp Mmp9 Mtor Npy1r Npy2r Nsf Ntrk2 Pgf Ptprz1 Rasgrf1 Reln Rgma Shh Slc32a1 Slc6a1 Vdac2	11461 11518 11829 11998 12007 12286 12767 12919 13385 14281 14573 14645 14661 14809 14812 14816 15165 16485 17196 17395 17756 17762 18166 18167 18195 18212 18654 18669 19283 19417 19699 20423 22334 22348 232333 244058 56320 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:423	myopathy	Actb Clcn2 Clcnka Clcnkb Col15a1 Col18a1 Col4a1 Col4a2 Col4a3 Col4a4 Dnm2 Flnb Flnc Hmgcr Hnrnpa1 Hnrnpa3 Ldb3 Lmna Lmnb1 Lmnb2 Megf10 Megf11 Mtmr1 Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b Pdlim5 Pdlim7 Pear1 Psmc5	11461 12724 12733 12819 12822 12826 12827 12828 12829 13430 140781 15357 15382 16905 16906 16907 17879 17882 17883 17884 17888 19184 214058 229279 24131 286940 53332 544791 56365 56376 668940 67399 68794 70417 73182	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	Actb Ccl2 F7 Fcgr2b Fcgr3 Fga Gale Gne Ifnl2 Il10 Itga2 Itga2b Itgb3 Mbl2 Mpl Myh9 Ptprj Src Tbxa2r Thpo Tnf Tuba8	11461 14068 14130 14131 14161 16153 16398 16399 16416 17195 17480 17886 19271 20296 20779 21390 21832 21926 330496 50798 53857 74246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	Actb Ren1	11461 19701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:422	congenital structural myopathy	Actb	11461	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050718	vitamin metabolic disorder	Slc5a5 Slc5a6	114613 170551	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	Atp5pd Duox1 Duox2 G6pd Ghr Inhbb Nefl Nefm Ngfr Ppargc1a Slc5a5 Trhr Tshr	114613 24377 24588 24596 25196 25235 25360 25570 266807 641434 79107 83516 83613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112185	thyroid dyshormonogenesis 1 Aliases: TDH1 genetic defect in thyroid hormonogenesis 1 iodide accumulation, transport, or trapping defect	Slc5a5	114613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	Abcb11 Abcb4 Abcc2 Abcc3 Abcg5 Abcg8 Ace Cd14 Cd44 Cftr Col1a1 G6pd Hp Il1a Il4 Lamp2 Mmp2 Nos3 Pdgfb Prkaa1 Slc10a1 Slco1a4 Slco1b2 Timp1	114628 116510 140668 155192 170698 24255 24310 24377 24464 24493 24600 24628 24777 24891 24944 25303 25406 287287 29393 58978 60350 65248 81686 83569	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	Abcc2 Abcc3 Abcg5 Abcg8 Acadm Acadvl Actb Adrb3 Akt1 Aldh2 Atp5f1a Ccl2 Col1a1 Dgat2 Fasn G6pd Hadha Hfe Hmgcr Hp Ifna5 Igf1r Il10 Il13 Il1rn Irs1 Krt18 Lep Lepr Lpl Mlxipl Nampt Nfe2l2 Pklr Pon2 Ppargc1a Samm50 Serpine1 Sidt2 Slc7a3 Sod2 Tfrc Tlr4 Tnf Ucp2	114628 116553 140668 155192 170670 171078 24158 24185 24377 24464 24536 24539 24617 24651 24770 24787 24835 252900 25303 25325 25363 25467 25608 25645 25675 25718 29199 29260 29393 29485 294853 29539 296851 297508 298210 300111 315617 50671 54315 60582 64678 65262 81822 83516 83619	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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