GlyCosmos Portal

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

Displaying entries **8676 - 8700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050889	non-syndromic intellectual disability	Tecr	106529	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	Gnao1 Idh3a Scn8a Stxbp1	14681 20273 20910 67834	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111776	46,XY sex reversal 5 Aliases: 46,XY gonadal dysgenesis, complete, CBX2-related 46,XY sex reversal, CBX2-related SRXY5 disorder of sex development, 46,XY, CBX2-related sex reversal, XY, CBX2-related	Cbx2	12416	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080440	developmental and epileptic encephalopathy 3 Aliases: early infantile epileptic encephalopathy 3	Slc25a22	68267	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060272	pontocerebellar hypoplasia type 3	Pclo	26875	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111675	neurooculocardiogenitourinary syndrome Aliases: NOCGUS	Wdr37	207615	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081365	Paget's disease of bone 2 Aliases: Paget disease of bone-2	Tnfrsf11a	21934	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	Chrm3	12671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	Abcb1a Abcb1b Ace Adipoq Ccl2 Ccr5 Cd40lg Cfb Cpb2 Ctla4 Cyp1a1 Fas Fcgr4 H2-Ab1 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Icam1 Ifng Il10 Il17a Il1rn Il21r Il23r Il2 Il4 Itga2 Itgam Mbl2 Mmp2 Mmp9 Nos3 Pon1 Proz Slc11a1 Sod1 Stat3 Tgfb1 Tlr2 Tlr3 Tlr4 Tnf Tnfrsf1a Vegfa Vim Vwf	110557 11421 11450 12477 12774 13076 14102 142980 14961 14962 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15894 15978 16153 16171 16181 16183 16189 16398 16409 17195 17390 17395 18127 18173 18669 18671 18979 20296 20655 20848 209590 21803 21898 21926 21937 21947 22339 22352 22371 24088 246256 56373 60504 66901	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080453	developmental and epileptic encephalopathy 25 Aliases: DEE25 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25	Slc13a5	237831	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	Lep	16846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110820	hereditary spastic paraplegia 75 Aliases: SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75	Mag	17136	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10b Dync2h1 Lrp5 Mto1 Ush2a Wfs1	110350 16973 22283 22393 380959 68291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081075	Marsili syndrome Aliases: congenital analgesia congenital insensitivity to pain	Zfhx2	239102	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110438	dilated cardiomyopathy 1JJ Aliases: CMD1JJ	Lama4	16775	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080939	hereditary angioedema type I	Serping1	12258	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110751	type 1 diabetes mellitus 12 Aliases: IDDM12 Insulin-Dependent Diabetes Mellitus 12	Ctla4	12477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	Bcl9 Bcl9l	77578 80288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	Adra2a Lmna Pparg	11551 16905 19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	Chrne	11448	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	Actn2 Cdh2 Des Dsc1 Dsc2 Dsc3 Dsg2 Gja1 Il6ra Jup Lmna Pkp2 Ryr2 Scn5a Tgfb3	11472 12558 13346 13505 13506 13507 13511 14609 16194 16480 16905 20191 20271 21809 67451	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12117	pulmonary alveolar microlithiasis	Slc34a2	20531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:255	hemangioma	Mmp2 Slc2a1	17390 20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	Plec	18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14737	craniofrontonasal syndrome Aliases: CFND CFNS craniofrontonasal dysostosis craniofrontonasal dysplasia	Efnb1	13641	Mus musculus (house mouse)	Alliance of Genome Resources

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