GlyCosmos Portal

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

Displaying entries **5251 - 5275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	Dcxr	171408	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	Dcxr	67880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	Ddb1	13194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type Aliases: SMED short limb-abnormal calcification type SMED short limb-hand type SMED type 2 SMED, type II SMED-SL SMED-SL/AC spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondylometaepiphyseal dysplasia short limb-hand type	Ddr2	18214	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:3869	childhood medulloblastoma Aliases: pediatric Medulloblastoma	Ddx3y	26900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050457	Sertoli cell-only syndrome Aliases: DEL CASTILLO SYNDROME Germinal Cell Aplasia	Ddx3y	26900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070054	Vulto-van Silfout-de Vries syndrome Aliases: IDDISBAS MRD24 VSVS autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability 24 intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures	Deaf1	54006	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9351	diabetes mellitus Aliases: diabetes	Delta Egfr Fuca Glut1 Hex-t1 Hex-t2 Hmgcr InR Lar Pdfr Spn28Dc Tl Zw gbb l(2)03659 promL scb st sxc w wfs1	117364 31234 31271 32974 34091 35259 35486 36692 37455 3772574 37778 38109 38372 39836 42313 42549 42679 42803 43191 43222 47905	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	Delta Eogt N	31293 33424 42313	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	Delta Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Ser Tl	31926 34978 34979 34981 36868 37104 42313 43222 43275	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	Delta N Sod3	31293 36232 42313	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	Delta N nAChRalpha1 nAChRbeta1 nAChRbeta2	31293 38545 42313 42918 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	Delta N	31293 42313	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050852	limb ischemia	Delta htl kdn	31579 42160 42313	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	Delta	42313	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:799	varicose veins Aliases: Varix Venous ectasia Venous varices varices	Delta	42313	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	Depdc5 Dnm1 Dnm2 Dnm3 Gnao1 Kcnh5 Kcnq2 Kcnq3 Pigk Slc32a1 Stxbp1 Sv2a	103967 110862 13429 13430 14681 16536 20910 22348 238271 277854 329777 64051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081423	familial focal epilepsy with variable foci 3	Depdc5	277854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081421	familial focal epilepsy with variable foci 1	Depdc5	277854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	Des Ldb3	13346 24131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:397	restrictive cardiomyopathy Aliases: Cardiomyopathy, constrictive primary restrictive cardiomyopathy	Des Map2k3 Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b Mypn Tnni3 Wrn	13346 140781 17879 17882 17883 17884 17888 21954 22427 26397 544791 668940 68802	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111551	neurogenic scapuloperoneal syndrome Kaeser type Aliases: Kaeser syndrome Stark-Kaeser syndrome scapuloperoneal syndrome type Kaeser scapuloperoneal syndrome, neurogenic, Kaeser type	Des	13346	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110431	dilated cardiomyopathy 1I Aliases: CMD1I	Des	13346	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Dg Gmppb rt tw	31024 36773 39297 40599	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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