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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 **1026 - 1050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1289	neurodegenerative disease Aliases: degenerative disease	ACO1 FIG4 MTM1 RHO1 RPN1 TPI1	851013 851620 853173 855392 856294 856422	Saccharomyces cerevisiae S288C
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	DPM2	8818	Homo sapiens (human)
DOID:9402	epididymitis	TNF UNG	7124 7374	Homo sapiens (human)
DOID:0050674	congenital bile acid synthesis defect Aliases: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency	AKR1D1 AMACR CYP7A1 CYP7B1 HSD3B7	1581 23600 6718 80270 9420	Homo sapiens (human)
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	ICAM1	3383	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	sqv-2	173635	Caenorhabditis elegans
DOID:440	neuromuscular disease	Pgi	35886	Drosophila melanogaster (fruit fly)
DOID:0080759	Fanconi renotubular syndrome 3	EHHADH	1962	Homo sapiens (human)
DOID:2474	vernal conjunctivitis	CHIA LGALS3	27159 3958	Homo sapiens (human)
DOID:0080162	lupus nephritis	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:5075	myxopapillary ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	ACADM CAT G6PD GPX3 OGDH OXCT1 PGM1	2539 2878 34 4967 5019 5236 847	Homo sapiens (human)
DOID:0050833	orotic aciduria	UMPS	7372	Homo sapiens (human)
DOID:9370	obsolete exophthalmos Aliases: proptosis	ACHE ALG1 ALG9 ALPL B3GALT6 B4GALT7 COG4 EFNA5 FIG4 HAS2 ICAM1 PTEN SMUG1 UGDH XYLT1	11285 126792 1946 23583 249 25839 3037 3383 43 56052 5728 64131 7358 79796 9896	Homo sapiens (human)
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)
DOID:3669	intermittent claudication Aliases: Charcot's syndrome	ABO ACE AGXT ALDH7A1 BAD CALR CD14 CHI3L1 CYP1A1 CYP1A2 CYP2C19 DLD ENPP1 GPX1 ICAM1 KLRB1 LIPC PCYT1A SIRT2 SLC2A10 SRD5A1 VCAM1 VCAN XYLT1 XYLT2	1116 1462 1543 1544 1557 1636 1738 189 22933 28 2876 3383 3820 3990 501 5130 5167 572 64131 64132 6715 7412 81031 811 929	Homo sapiens (human)
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	alg12	548874	Xenopus tropicalis (tropical clawed frog)
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	LEP	3952	Homo sapiens (human)
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	Gba1	14466	Mus musculus (house mouse)
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CTS2	851977	Saccharomyces cerevisiae S288C
DOID:552	pneumonia Aliases: acute pneumonia	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)
DOID:1791	peritoneal carcinoma Aliases: primary peritoneal carcinoma	DPEP1 PARP1 PARP2 PTEN TYMP	10038 142 1800 1890 5728	Homo sapiens (human)
DOID:83	cataract	gly-15 gly-16 gspd-1	173109 173114 178046	Caenorhabditis elegans
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	Glyp Zw	32974 33386	Drosophila melanogaster (fruit fly)

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