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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 **4851 - 4875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABCB11 ABCB1 ABCB4 ABCB5 ABCC12 ABCC4 ADRB1 ADRB2 ADRB3 AGER C5 CCL11 CCL2 CCR3 CD14 CD40LG CFTR CLCA1 CLCN2 CSF3R CXCR3 CYP1A1 EDEM1 EDN1 FAS FASLG FCGR2A GCLC HAVCR2 HFE HLA-G HSPA1A HSPD1 IGFBP3 IL13 IL17A IL18BP IL1A IL1RN IL6 IL9 IL9R LEP LTA MBL2 MIF MMP9 MPO MUC1 MUC2 MUC5AC MUC5B NOS1 NOS2 NOS3 PPARA PRSS1 PTGDR2 PTGS2 PTX3 SCNN1B SERPINA3 SFTPA1 SFTPB SFTPC SFTPD TGFB1 TIMP1 TLR4 TLR5 TLR9 TNF	10068 10257 1080 11251 1179 1181 12 1232 1441 153 154 1543 155 177 1906 2212 2729 2833 3077 3135 3303 3329 340273 3486 355 3552 3557 356 3569 3578 3581 3596 3605 3952 4049 4153 4282 4318 4353 4582 4583 4586 4842 4843 4846 5243 5244 54106 5465 5644 5743 5806 6338 6347 6356 6439 6440 6441 653509 7040 7076 7099 7100 7124 727 727897 84868 8647 929 94160 959 9695	Homo sapiens (human)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Abcb11 Abcb1a Abcb1b Abcb4 Abcb5 Adrb1 Adrb2 Adrb3 Ager Ccl11 Ccl2 Cd14 Cd40lg Cftr Clca1 Clcn2 Csf3r Cxcl9 Cxcr3 Cyp1a1 Edem1 Fas Fasl Fcgr2b Fcgr3 Gclc H2-D1 H2-K1 H2-M2 H2-M3 H2-Q10 H2-Q1 H2-Q2 H2-Q6 H2-Q7 Havcr2 Hc Hfe Hspa1a Hspd1 Igfbp3 Il13 Il17a Il18bp Il1a Il1rn Il9 Il9r Lep Lta Mbl2 Mmp9 Mpo Muc1 Muc5ac Muc5b Nos3 Ppara Ptgdr2 Ptgs2 Ptx3 Scnn1b Serpina3a Serpina3b Serpina3c Serpina3f Serpina3j Serpina3k Serpina3m Serpina3n Sftpb Sftpd Tgfb1 Timp1 Tlr4 Tlr5 Tlr9 Tnf	110557 11554 11555 11556 11596 12475 12638 12724 12766 12986 13076 14102 14103 14130 14131 14629 14764 14964 14972 14990 14991 15006 15007 15013 15018 15139 15216 15510 16009 16068 16163 16171 16175 16181 16198 16199 16625 16846 16992 171285 17195 17329 17395 17523 17829 17833 18127 18669 18670 18671 19013 192193 19225 19288 193740 20277 20292 20296 20388 20390 20714 20716 20717 21803 21857 21898 21926 21947 238393 238395 23844 271047 27413 53791 74069 74180 77706 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Edem2 Mdr49 Mdr65 Octbeta1R Octbeta2R Pxn Spn28Dc Tl l(2)03659	34091 34714 36428 38326 38726 41549 42652 43222 47905	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	EDA EDAR	10913 1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	Eda Edar	13607 13608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	egr	36054	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	Cep290 Crb1 Crb2 Pals1 Prph2	170788 19133 216274 241324 56217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	Gucy2e Prph2	113911 25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	crb	42896	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	CCT2 CRB1 GUCY2D MYO7A PALS1 PRPH2 RDH11 RDH14	10576 23418 3000 4647 51109 57665 5961 64398	Homo sapiens (human)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	prph2.S	398002	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	Col2a1 Hapln1	12824 12950	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	Col2a1 Hapln1	25412 29331	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	COL2A1 HAPLN1	1280 1404	Homo sapiens (human)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	col2a1	394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	ANKRD11	29123	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	Ankrd11	77087	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	FOXL2	668	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	Fgfr2	14183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	FGFR2 TWIST1 TWIST2	117581 2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	btl htl	39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	fgfr2	352940	Danio rerio (zebrafish)	Alliance of Genome Resources

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