GlyCosmos Portal

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

Displaying entries **10051 - 10075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	Wdr45	54636	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080282	developmental and epileptic encephalopathy 56 Aliases: DEE56 early infantile epileptic encephalopathy 56	Ywhag	22628	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	Col2a1 Enpp1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Tnf	110557 12824 14964 14972 14990 15006 15007 15013 15015 15018 15043 18605 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080000	muscular disease	Acaca Acacb Clu Cpt2 Fasn Hmgcr Itga7 Lpl Nmt1	100705 107476 12759 12896 14104 15357 16404 16956 18107	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Ihh Mutyh	16147 70603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111028	hemochromatosis type 4 Aliases: HFE4 autosomal dominant hereditary hemochromatosis ferroportin disease hemochromatosis due to defect in ferroportin	Slc40a1	53945	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110765	hereditary spastic paraplegia 12 Aliases: SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12	Rtn1 Rtn3 Rtn4	104001 20168 68585	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	Flnb	286940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	Aifm1	26926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	Sec24d	69608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	Etfdh	66841	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	Chrnd	11447	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070132	autosomal recessive cutis laxa type IIIA Aliases: ARCL3A De Barsy syndrome A	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080050	acromesomelic dysplasia, Maroteaux type Aliases: acromesomelic dysplasia-1	Npr2	230103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	Akt1 Azgp1 Bmp6 Bst2 Calr Car12 Chrna5 Chrna7 Chrnb4 Clptm1l Col14a1 Cxcr4 Cyp1a1 Dab2ip Dcc Dpp4 Efnb2 Egfr Ehmt1 Epb41l3 Ephb4 Erbb4 Ezh2 Fanca Fap Fat1 Fes Fgfr4 Idh2 Kat2b Kdm6a Krt7 Mbd4 Mlh1 Mmp2 Mmp9 Ptch1 Ptprt Runx2 Slc7a5 Spen Tet2 Tet3 Tgfbr2 Tnfaip3 Trp53	108015 110310 110835 11441 11651 12007 12161 12317 12393 12767 12818 13076 13176 13482 13642 13649 13823 13846 13869 14056 14087 14089 14107 14159 14186 17193 17350 17390 17395 18519 19206 19281 194388 20539 214133 21813 218335 21929 22059 22289 269951 56381 69550 69601 76459 77683	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:5627	adenosquamous gallbladder carcinoma Aliases: Adenosquamous carcinoma of the gallbladder	Ddr2	18214	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080505	Cornelia de Lange syndrome 1	Nipbl	71175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090034	myoclonic dystonia 11	Sgce	20392	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	Cnp Drd3 Ptprd Slc11a2 Trf	12799 13490 18174 19266 22041	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	68401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	Fgfrl1 Letm2	116701 270035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:820	myocarditis Aliases: Myocardial inflammation	Ace Adrb2 Ccl2 Ctla4 Cxcr3 Gja1 H2-Ab1 Icam1 Icos Il10 Il17a Il22 Il22b Itgb2 Itgb2l Lcn2 Ppa2 Ptger4 Spp1 Stat6 Tnfrsf11a Tnfrsf11b Tnfsf11	11421 11555 116849 12477 12766 14609 14961 15894 16153 16171 16414 16415 16819 18383 19219 20296 20750 20852 21934 21943 50929 54167 74776	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9432	renal glycosuria Aliases: renal diabetes	Slc5a2	246787	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5585	Ferguson-Smith tumor Aliases: Multiple self-healing epithelioma of Ferguson-Smith	Tgfbr1	21812	Mus musculus (house mouse)	Alliance of Genome Resources

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