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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **3401 - 3425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	Ndufs1 Ndufs2 Slc22a5 Uqcrb	289218 29726 301458 362897	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	Abo2 Abo3 Abo	100301568 296504 65270	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9155	mucocutaneous leishmaniasis Aliases: American cutaneous leishmaniasis American mucocutaneous leishmaniasis Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis	Lta Tnf	24835 25008	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110451	dilated cardiomyopathy 1O Aliases: CMD1O dilated cardiomyopathy with ventricular tachycardia	Abcc9	25560	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	Pomt2	688673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	Ace2 Ace Adrb3 Agt Akr1b1 Akt1 Angpt1 Angpt2 Aoc3 Apob Aqp4 Bdkrb1 Bdnf Ccl2 Cd59b Clu Crp Dll4 Epo F13a1 F7 Fuca1 Gapdh Ggt1 Hfe Hgf Icam1 Igf1r Il10 Il1a Ins1 Ins2 Itgb3 Lta Mmp2 Mmp9 Nfe2l2 Ngf Nos1 Nos3 Npr3 Pdx1 Pf4 Pgf Pon1 Ppargc1a Rbp4 Robo1 Serpine1 Sod3 Tlr4 Tnf Vcam1 Vegfa	116568 24179 24185 24192 24225 24310 24335 24375 24383 24446 24493 24505 24506 24598 24600 24617 24770 24835 24854 25008 25293 25325 25339 25352 25361 25407 25419 25464 25645 25703 25718 260320 29199 29260 29302 29473 29535 302668 310738 311332 360918 54225 58946 60327 81509 81686 81687 83516 83619 83785 84024 89805 89807 94203	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	Ctnnb1 Ifng Pdgfra Smo Tp53	24842 25267 25273 25712 84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	Apob	54225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	Bdnf	24225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110734	neurodegeneration with brain iron accumulation Aliases: NBIA	Crat	311849	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	Atp1a2	24212	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	Icam1 Il1a	24493 25464	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	Fgfr1	79114	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	Atp7a	24941	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	Slc52a2	362942	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	Cpt1a Esr1 Gapdh Gls Mmp9 Nos3	24383 24398 24600 24890 25757 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	Apob Ghr Gk Ldlr Mmp9 Pcsk9 Pon2 Rbp4 Serpine1	24617 25235 25703 296851 298296 300438 54225 79223 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111974	immunodeficiency 59 Aliases: IMD59 granulocytopenia with immunoglobin abnormality immunodeficiency 59 and hypoglycemia	Hyou1	192235	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	Scn8a	29710	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	Icos	64545	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	Ccl2 Cd14 Hmgb1 Pcna Ucp2	24770 25459 25737 54315 60350	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	C3 Ccl7 Chia Csf2 Il1rn Prkcb Tnf	113901 116630 24232 24835 25023 287561 60582	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070204	familial partial lipodystrophy type 3 Aliases: FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations	Pparg	25664	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Aprt Hprt1	24465 292072	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9266	cystinuria	Slc3a1	29484	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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