GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **10926 - 10950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111502	combined oxidative phosphorylation deficiency 6 Aliases: COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy	Aifm1	26926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	Abcc2 Abcc8 Adamts1 App Arc Bad Bag3 C7 Ccnb1 Cdkl5 Chrna3 Cntnap2 Dkk1 Drd3 Egr1 Eno2 Epo Erbb4 Fas Fcgr2b Fcgr3 Fcgr4 Fgfr1 Gabbr1 Gap43 Gja1 Gjb6 Glud1 Glul Gria1 Grik5 Grm8 Hcn1 Hcn2 Hrh3 Hspa1a Hspa5 Ifng Il6ra Il6st Kcna1 Kcnj11 Kdm3b Map1b Mecp2 Nfe2l2 Ngfr Npy1r Npy5r Nr3c1 Pcsk1 Pdgfb Plp1 Ptgs2 Ptprz1 Rrm1 Rtn4 Scn2b Slc12a2 Slc38a1 Slc38a2 Slc38a3 Slc6a11 Smo Spp1 Srebf2 Syt1 Tacr3 Tnf Tnfrsf1a Tnfrsf1b Tuba1a Vdac1 Vdac2 Vip Vtn Wfs1 Wnt2 Ywhaz	105727 109828 110834 11504 11820 11838 12015 12780 13380 13490 13653 13807 13856 13869 14102 14130 14131 14182 14432 14609 14623 14645 14661 14799 14809 14815 14823 14828 15165 15166 15978 16194 16195 16485 16514 17257 17755 18024 18053 18166 18168 18548 18591 18823 19225 19283 193740 20133 20496 20750 20788 20927 20979 21338 21926 21937 21938 22142 22333 22334 22353 22370 22393 22413 22631 243616 246256 268697 277250 29810 319757 382253 54393 66797 67760 68585 72821 76257 99296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14756	vascular type Ehlers-Danlos syndrome Aliases: autosomal dominant type IV Ehlers-Danlos syndrome	Col3a1	12825	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	Cga Esr1 Flt1 Inha Lhcgr Pdgfa Pdgfb Pdgfra Pdgfrb	12640 13982 14254 16322 16867 18590 18591 18595 18596	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	Arpc1b Asxl1 Atg7 Bap1 Cd40 Csf3r Ddx42 Egr1 Ezh2 Fas Fasl Fcgr4 Gnb1 Hfe Idh1 Itgb3 Npm1 Prpf8 Rap1gap Slc22a21 Slc22a5 Srsf11 Tet2 Tnf Trp53	104416 110351 11867 12986 13653 14056 14102 14103 14688 15216 15926 16416 18148 192159 20520 214133 21926 21939 22059 228790 246256 56517 69207 72047 74244	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110371	retinitis pigmentosa 56 Aliases: RP56	Impg2	224224	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11624	penile benign neoplasm Aliases: Penile tumor neoplasm of penis	Top2a	21973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	Kl	16591	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	Colgalt1	234407	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	Phka1	18679	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070074	autosomal dominant intellectual developmental disorder 44 Aliases: MRD44 autosomal dominant intellectual developmental disorder 44 with microcephaly autosomal dominant mental retardation 44 autosomal dominant non-syndromic intellectual disability 44	Trio	223435	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110381	retinitis pigmentosa 14 Aliases: RP14	Tulp1	22157	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080809	chronic asthma	Ngf	18049	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110429	dilated cardiomyopathy 1H Aliases: dilated cardiomyopathy with conduction defect	Adrb3 Aifm1 H2-Aa H2-Ab1 Slc25a4 Tnf Trpc5	11556 11739 14960 14961 21926 22067 26926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1934	dysostosis	Efnb1 Kif3a	13641 16568	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050127	sinusitis	Cfb Cftr Chia1 Chil3 Chil4 Il13 Il2 Lta Mmp9 Muc5b Nr3c1 Pdgfb Plaur Sftpd Tlr2 Tlr4 Tlr9	104183 12638 12655 14815 14962 16163 16183 16992 17395 18591 18793 20390 21898 24088 74180 81600 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	Ccr5 H2-Aa H2-Ab1 H2-Eb1 Hfe Hspd1 Il1a Il2 Lacc1 Mbl2 Selp Slc11a1 Slc26a2 Thbd	12774 13521 14960 14961 14969 15216 15510 16175 16183 17195 18173 20344 210808 21824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070063	autosomal dominant intellectual developmental disorder 33 Aliases: MRD33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability 33	Dpp6	13483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050153	pulmonary aspergilloma	Ptx3	19288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050750	splenic marginal zone lymphoma	Cd79b	15985	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110557	autosomal dominant nonsyndromic deafness 28 Aliases: DFNA28 autosomal dominant deafness 28	Grhl2	252973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4138	bile duct disease Aliases: bile duct disorder disorder of bile duct	F3	14066	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11111	hydronephrosis	Havcr1 Lcn2 Timd2	16819 171283 171284	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050336	hypophosphatemia	Slc34a1	20505	Mus musculus (house mouse)	Alliance of Genome Resources

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