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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 **1426 - 1450** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080216	duodenal atresia	GAS1 PIGN	23556 2619	Homo sapiens (human)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	Lipa	16889	Mus musculus (house mouse)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	CAT CEL CHIT1 LIPA LIPF NCAM1 SOAT2	1056 1118 3988 4684 8435 847 8513	Homo sapiens (human)
DOID:0080218	primary spontaneous pneumothorax	CERS1	10715	Homo sapiens (human)
DOID:0080220	obsolete major affective disorder 1	ACE COMT DGKH GAD1 IMPA2 NCAM1 NPL PFKL PIP4K2A PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 3613 4684 5211 5305 5320 5321 6609 80896 8398 8399	Homo sapiens (human)
DOID:0080221	obsolete major affective disorder 2	ABO ACE COMT DGKH GAD1 IMPA2 INPP1 NCAM1 NPL PFKL PGP PIP4K2A PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 28 283871 3613 3628 4684 5211 5305 5319 5320 5321 6609 80896 8398 8399	Homo sapiens (human)
DOID:0080222	pseudohypoparathyroidism type IB	ASAH1	427	Homo sapiens (human)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	ogt-1	176000	Caenorhabditis elegans
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	ogt	553157	Xenopus tropicalis (tropical clawed frog)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	ogt.1 ogt.2	337685 652952	Danio rerio (zebrafish)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	sxc	35486	Drosophila melanogaster (fruit fly)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	ogt.L	447694	Xenopus laevis (African clawed frog)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	Ogt	26295	Rattus norvegicus (Norway rat)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	Ogt	108155	Mus musculus (house mouse)
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	Homo sapiens (human)
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	Pigp	56176	Mus musculus (house mouse)
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	GPI19	852047	Saccharomyces cerevisiae S288C
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)
DOID:0080301	atypical hemolytic-uremic syndrome	BAAT DGKE G6PD GPI GRHPR MASP1 PIGA	2539 2821 5277 5648 570 8526 9380	Homo sapiens (human)
DOID:0080302	mixed sleep apnea Aliases: complex sleep apnea	ACE CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3958 54187 55556 5728 5743 79158	Homo sapiens (human)
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	Homo sapiens (human)

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