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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5926 - 5950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:3304	germinoma	Braf	109880	Mus musculus (house mouse)
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	15452	Mus musculus (house mouse)
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	Gba2	230101	Mus musculus (house mouse)
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	Eno2	13807	Mus musculus (house mouse)
DOID:9775	diastolic heart failure	Lepr	16847	Mus musculus (house mouse)
DOID:0080855	Parkinsonism	Bad Comt Eno2 Gba1 Gsk3a Kcnj11	12015 12846 13807 14466 16514 606496	Mus musculus (house mouse)
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	Mtap Tymp	66902 72962	Mus musculus (house mouse)
DOID:0060071	pre-malignant neoplasm	Trp53	22059	Mus musculus (house mouse)
DOID:0050453	lissencephaly	Pomgnt1 Pomt1 Pomt2	217734 68273 99011	Mus musculus (house mouse)
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	Comt	12846	Mus musculus (house mouse)
DOID:9970	obesity	Adipoq Akt2 Aldh1a1 Apod Bad Comt Cpt1a Enpp1 G6pd2 G6pdx Gapdh Gck Hk1 Hk2 Htr2a Inppl1 Lep Lepr Myc Nampt Neil1 Npy1r Pdx1 Pgf Pik3r1 Ppara Ppargc1a Prkaa1 Rbp4 Serpina12 Sirt6 Tcf7l2 Tlr4 Tnf Ucp2 Wdtc1	103988 105787 11450 11652 11668 11815 12015 12846 12894 14380 14381 14433 15275 15277 15558 16332 16846 16847 17869 18166 18605 18609 18654 18708 19013 19017 19662 21416 21898 21926 22228 230796 50721 59027 68054 72774	Mus musculus (house mouse)
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	Tnf	21926	Mus musculus (house mouse)
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)
DOID:0070295	primary autosomal dominant microcephaly 18 Aliases: MCPH18	Wdfy3	72145	Mus musculus (house mouse)
DOID:0080784	urinary tract infection Aliases: UTI	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	Alg1	208211	Mus musculus (house mouse)
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:1407	anterior uveitis	Tlr2 Tlr4 Tnf	21898 21926 24088	Mus musculus (house mouse)
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	Gcnt2	14538	Mus musculus (house mouse)
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	Arl6	56297	Mus musculus (house mouse)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	18655	Mus musculus (house mouse)
DOID:2615	papilloma Aliases: papillomatosis	Pla2g4a	18783	Mus musculus (house mouse)
DOID:0110370	retinitis pigmentosa 55 Aliases: RP55	Arl6	56297	Mus musculus (house mouse)
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	Comt	12846	Mus musculus (house mouse)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3glct	381694	Mus musculus (house mouse)

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