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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 **3226 - 3250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070033	autosomal dominant intellectual developmental disorder 3 Aliases: MRD3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability 3	Cdh15	12555	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080773	delta beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	cxcr4	100038176	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	Gp6	243816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111722	amelogenesis imperfecta type 3C Aliases: AI3C amelogenesis imperfecta type IIIC autosomal recessive amelogenesis imperfecta hypocalcification type	Relt	320100	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	Icam1 Il1a Il2 Mmp2 Mmp9 Tlr4 Tnf Tp53 Vegfa	116562 24493 24835 24842 25464 29260 81686 81687 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111541	pigmented paravenous chorioretinal atrophy Aliases: PPRCA	crb	42896	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	Ace Acvr2b Add1 Arid1a Atp2b1 Atp2b2 Atp2b4 C3 Ccn3 Cd274 Cd40 Cd40lg Cd46 Chi3l1 Clu Comt Corin Cst3 Cubn Dab2ip Ebi3 Eng Entpd1 Ephx1 Erbb2 Esr2 F2 F2r F3 F5 Fas Fasl Flt1 Gc Gpx1 Gpx4 Gsn H2-Ab1 H2-D1 H2-K1 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 Hp Hsd11b1 Icam1 Il1rn Itga4 Itgam Itpr1 Itpr3 Lcn2 Lep Lepr Mmp2 Mmp9 Nos3 Notch2 Ogg1 Pdcd1 Pgf Plaur Pml Pparg Proc Ptgs1 Ptpn2 Rbp4 Robo1 Robo4 Ryr1 Ryr2 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpinf2 Slc2a1 Stox1 Tfpi Timp1 Tlr3 Tlr4 Tnf Tnfrsf1b Trpv6 Vegfa	110557 11421 11481 11518 11941 12266 12495 12654 12759 12846 13010 13805 13849 13866 13983 14061 14062 14066 14067 14102 14103 14254 142980 14473 14775 14961 14964 14972 15006 15007 15013 15015 15018 15439 15483 15894 16181 16401 16409 16438 16440 16819 16846 16847 17221 17390 17395 18127 18129 18133 18294 18566 18654 18793 18816 18854 19016 19123 19224 19255 19662 19876 20190 20191 20525 20700 20701 20702 20703 20704 216021 21788 21857 21898 21926 21938 21939 21947 22339 227753 381290 50498 53419 60533 625249 64177 65969 67972 69601 74144 93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070277	primary autosomal recessive microcephaly 15 Aliases: MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	MFSD2A	84879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110354	retinitis pigmentosa 19 Aliases: RP19	Abca4	11304	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	bmp4.S	399322	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:14256	adult-onset Still's disease Aliases: adult onset Still's disease adult-onset Still disease	HGF VEGFA	3082 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:3454	brain infarction	Aldh2 Calcrl Cd8a Hgf Hmgb1 Htr2b Icam1 Igf2 Il15 Il2 Kcnk6 Mmp8 Mmp9 Parg Pdgfb Tnf	116491 116562 24446 24483 24628 24835 24930 25029 25459 25464 25670 29539 29581 63849 81687 83507	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	OST3 SYP1	850396 854252	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	Bap1 Chrna7 Ezh2 Fxr1 Il7r Kdm6a Mlh1 Ncoa2 Setd2 Slc7a5 Smo	104416 11441 14056 14359 16197 17350 17978 20539 22289 235626 319757	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	OTOG	340990	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080846	latent autoimmune diabetes in adults Aliases: LADA type 1.5 diabetes	CTLA4	1493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110501	autosomal recessive nonsyndromic deafness 44 Aliases: DFNB44 autosomal recessive deafness 44	rut	32406	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8295	scabies Aliases: Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	fgfr2	352940	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	Fgfr2	25022	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	Abcc9 Kcne2 Kcnq1 Nup155 Scn1b Scn2b Scn5a	117021 171138 25349 25560 25665 29686 84020	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:687	hepatoblastoma	APOA1 CDH1 CLDN1 CTNNB1 DPEP1 FAS GPC3 MKI67 SALL1 SALL4 SMO SPOP ZFHX3	1499 1800 2719 335 355 4288 463 57167 6299 6608 8405 9076 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ACE ADAMTS13 AGER AGT ANXA5 BDNF C3 CCL2 CCR6 CD86 CFB CHI3L1 CLU COL1A1 COL3A1 CP CSF1 CX3CL1 CXCL16 CXCR3 CXCR6 EDN1 ELN ESR1 F11R F2 FBN1 FLI1 FLT4 FOSL2 GPX3 HGF HLA-DQA1 HMGB1 ICAM1 IFNG IGFBP3 IL13 IL13RA1 IL17A IL1R1 IL23R IL27RA IL2 IL4 IL6 JAM3 KDR LTA MMP1 MMP3 MMP9 MUC1 NGF NOTCH4 PECAM1 PTGS2 RBP4 SELENOP SERPINE1 SERPINF2 SLC11A1 STAT4 TGFBR1 VEGFA VWF	10663 11093 1116 1191 1235 1277 1281 1356 1435 149233 1636 177 183 1906 2006 2099 2147 2200 2313 2324 2355 2833 2878 308 3082 3117 3146 3383 3458 3486 3554 3558 3565 3569 3596 3597 3605 3791 4049 4312 4314 4318 4582 4803 4855 5054 50848 5175 5345 5743 58191 5950 627 629 6347 6376 6414 6556 6775 7046 718 7422 7450 83700 942 9466	Homo sapiens (human)	Alliance of Genome Resources

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