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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 **4151 - 4175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	DGA1	854419	Saccharomyces cerevisiae S288C
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: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: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: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: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: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: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:0080200	bilateral renal aplasia	DHCR24 DHCR7 FREM1 GAS1 HS6ST1 NSDHL	158326 1717 1718 2619 50814 9394	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: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: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: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: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:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)
DOID:3159	photosensitivity disease Aliases: Photodermatitis	DHCR7 EPM2A FDPS KDSR PTGS2	1717 2224 2531 5743 7957	Homo sapiens (human)
DOID:11514	fissured tongue Aliases: Congenital fissure of tongue Congenital plicated tongue Fissure of tongue Fissure of tongue, congenital Furrowed tongue Plicated tongue Tongue, Fissured geographic tongue and fissured tongue lingua plicata scrotal tongue	DHCR7 FCN2 HPGDS PIK3CA PTEN SDHB SDHC SDHD	1717 2220 27306 5290 5728 6390 6391 6392	Homo sapiens (human)
DOID:10944	tongue disease	DHCR7 FCN2 HPGDS PLCB4 PTDSS1	1717 2220 27306 5332 9791	Homo sapiens (human)
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	DHCR7 MAN1B1 PAFAH1B1 SMUG1 TMTC3	11253 160418 1717 23583 5048	Homo sapiens (human)
DOID:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)
DOID:5050	Ehrlich tumor carcinoma Aliases: Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour	DHDDS HACD1	79947 9200	Homo sapiens (human)
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	DHDDS IDH1 IDH2 PIK3CA	3417 3418 5290 79947	Homo sapiens (human)
DOID:0110352	retinitis pigmentosa 59 Aliases: RP59	DHDDS	79947	Homo sapiens (human)
DOID:0080473	developmental delay and seizures with or without movement abnormalities	DHDDS	79947	Homo sapiens (human)

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