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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3776 - 3800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:3159	photosensitivity disease Aliases: Photodermatitis	DHCR7 EPM2A FDPS KDSR PTGS2	1717 2224 2531 5743 7957	Homo sapiens (human)
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	DHCR7 DLD FUT4 KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 SLC35C1 VCAM1	1717 1738 22914 2526 5290 5291 5293 5294 55343 5728 7412 81031	Homo sapiens (human)
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	DHCR7 DLD FUT4 GMDS SLC35C1	1717 1738 2526 2762 55343	Homo sapiens (human)
DOID:11818	ureteric orifice cancer Aliases: Orifice of the Ureter malignant neoplasm of ureteric orifice of urinary bladder malignant tumor of ureteric orifice	DHCR24	1718	Homo sapiens (human)
DOID:4297	scimitar syndrome Aliases: Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome	DHCR24 LFNG	1718 3955	Homo sapiens (human)
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	DHCR24 EBP FDFT1 GNPAT NSDHL STS	10682 1718 2222 412 50814 8443	Homo sapiens (human)
DOID:0080200	bilateral renal aplasia	DHCR24 DHCR7 FREM1 GAS1 HS6ST1 NSDHL	158326 1717 1718 2619 50814 9394	Homo sapiens (human)
DOID:0080388	nephrotic syndrome type 7 Aliases: Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN immunoglobulin-mediated membranoproliferative glomerulonephritis nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis	DGKE	8526	Homo sapiens (human)
DOID:2920	membranoproliferative glomerulonephritis Aliases: Lobular glomerulonephritis chronic glomerulonephritis, lobular	DGKE PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5238 5290 5291 5293 5294 5728 8526	Homo sapiens (human)
DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome Aliases: Barakat syndrome HDR syndrome hypoparathyroidism, sensorineural deafness, and renal disease	DGCR2 PARP1 STS	142 412 9993	Homo sapiens (human)
DOID:2012	Nezelof syndrome Aliases: Nezelof's syndrome T-cell immunodeficiency with thymic aplasia TIDTA thymic aplasia thymic dysplasia with normal immunoglobulins	DGCR2 IL18R1 PNP	4860 8809 9993	Homo sapiens (human)
DOID:0060779	congenital malabsorptive diarrhea 4 Aliases: congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhoea 4 congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells enteric anendocrinosis	DGAT1	8694	Homo sapiens (human)
DOID:0060778	congenital diarrhea 7 with exudative enteropathy Aliases: congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy	DGAT1	8694	Homo sapiens (human)
DOID:0060775	microvillus inclusion disease Aliases: Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy	DGAT1	8694	Homo sapiens (human)
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	DGAT1 UGT1A1	54658 8694	Homo sapiens (human)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	DGA1	854419	Saccharomyces cerevisiae S288C
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	DGA1	854419	Saccharomyces cerevisiae S288C
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	DGA1	854419	Saccharomyces cerevisiae S288C
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	DGA1 EMI2 GLK1 HXK1 HXK2 KAR2	850317 850614 852128 852639 853418 854419	Saccharomyces cerevisiae S288C
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1	8560	Homo sapiens (human)
DOID:0070399	hypomyelinating leukodystrophy 18 Aliases: HLD18	DEGS1	8560	Homo sapiens (human)
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	DDOST	1650	Homo sapiens (human)
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)
DOID:9432	renal glycosuria Aliases: renal diabetes	DCXR SLC2A2 SLC5A1 SLC5A2	51181 6514 6523 6524	Homo sapiens (human)

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