GlyCosmos Portal

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

Displaying entries **11201 - 11225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111188	myofibrillar myopathy 9 Aliases: Edstrom myopathy HIBM-ERF HMERF Hereditary inclusion body myopathy with early respiratory failure MFM-titinopathy MFM9 MPRM Myofibrillar myopathy-titinopathy autosomal dominant distal myopathy with early respiratory failure hereditary myopathy with early respiratory failure myofibrillar myopathy 9 with early respiratory failure proximal myopathy with early respiratory muscle involvement	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080178	mucositis	Elane Mki67 Muc4 Pcna Ulk1	140474 17345 18538 22241 50701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5031	adult pineal parenchymal tumor Aliases: adult Pineal Parenchymal neoplasm	Mki67	17345	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060812	syndromic X-linked intellectual disability Siderius type Aliases: MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome mental retardation syndrome, X-linked, Siderius type	Phf8	320595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	Dysf Fkrp Gsr Myof Sgcg	14782 226101 24053 243853 26903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081154	common variable immunodeficiency 12	Nfkb1	18033	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13963	nuclear senile cataract Aliases: Senile nuclear cataract Senile nuclear sclerosis	Fto	26383	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2913	acute pancreatitis	Cd163 F3 F7 Il10 Kit Lep Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Trem1	14066 14068 16153 16590 16846 20700 20701 20702 20703 20704 58217 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	Ace Dchs1 Des Fbn1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Tshr	110557 11421 13346 14118 14964 14972 14990 15006 15007 15013 15015 15018 15043 22095 233651	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112168	autosomal dominant nonsyndromic deafness 77 Aliases: DFNA77	Abcc1	17250	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9883	Becker muscular dystrophy Aliases: Benign pseudohypertrophic muscular dystrophy benign congenital myopathy	Dmd	13405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	Phkb	102093	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110015	age related macular degeneration 2 Aliases: ARMD2	Abca4	11304	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10579	leukodystrophy	Aars1 Acer3 Clcn2 Eif2s1 Eif2s3x	12724 13665 234734 26905 66190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070059	autosomal dominant intellectual developmental disorder 29 Aliases: MRD29 autosomal dominant mental retardation 29 autosomal dominant non-syndromic intellectual disability 29	Setbp1	240427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	Ccl2 Ctla4 Icam1 Ifng Il10 Il1a Il1rn Il23r Il2 Il3 Pparg Tnf Tshr	12477 15894 15978 16153 16175 16181 16183 16187 19016 20296 209590 21926 22095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081337	congenital myopathy	Hacd1 Ldb3	24131 30963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	A2m Aldob Esr1 Esr2 Foxp1 Gusb Plat Tnf	108655 110006 13982 13983 18791 21926 230163 232345	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12337	varicocele Aliases: Scrotal varices	Casp9 Fas Hspd1 Il1a	12371 14102 15510 16175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111450	progressive myoclonus epilepsy 9 Aliases: EMP9 PME type 9 progressive myoclonic epilepsy due to LMNB2 deficiency progressive myoclonus epilepsy type 9	Lmnb2	16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	Adamts13 Elane F13a1 F2 F3 Fga Gp6 Il10 Plat Proc Serpinc1 Tfpi Thbd Tnf	11905 14061 14066 14161 16153 18791 19123 21788 21824 21926 243816 279028 50701 74145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	Kcnj1	56379	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	Adam17 Adipoq Ager Alpi Alppl2 Ano6 Cd40lg Egfr Epb41l1 Epb41l2 Epb41l3 Esr2 Fgf23 Hspa5 Icam1 Igf2 Igfbp3 Il10 Il16 Il1rn Il21r Il2 Il2ra Klkb1 Ltf Mst1 Npsr1 Pdgfb Pdzd2 Slc11a1 Slc6a14 St6galnac1 Stat3 Tgfb1 Tnf Vegfa	105722 11450 11491 11596 11650 13649 13821 13822 13823 13983 14828 15235 15894 16002 16009 16153 16170 16181 16183 16184 16621 17002 18173 18591 20445 20848 21803 21926 21947 22339 319239 56774 60504 64654 68070 76768	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpine2 Serpini2	20700 20701 20702 20703 20704 20720 67931	Mus musculus (house mouse)	Alliance of Genome Resources

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