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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 **1576 - 1600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	COMT CYP2E1 DGAT1 MAG PRNP	1312 1571 4099 5621 8694	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	CALR DGAT1 PTGS2	5743 811 8694	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	CALR DGAT1 PTGS2	5743 811 8694	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111529	familial multiple nevi flammei Aliases: CMC congenital capillary malformations familial multiple port-wine stains	CYP1B1 ICAM1 KLRB1 MAG PIK3CA PIK3CB PIK3CD PIK3CG	1545 3383 3820 4099 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET DisGeNET
DOID:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	ICAM1 VCAM1	3383 7412	Homo sapiens (human)	DisGeNET
DOID:2283	keratopathy	ICAM1 VCAM1	3383 7412	Homo sapiens (human)	DisGeNET
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	CAT CYP3A5 PTGES3 ST8SIA1	10728 1577 6489 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5691	visual cortex disease Aliases: visual cortex dysfunction	FDFT1 PIGP	2222 51227	Homo sapiens (human)	DisGeNET
DOID:4540	dysgraphia	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:602	cancerophobia Aliases: Fear of getting cancer cancer phobia	TMTC3	160418	Homo sapiens (human)	DisGeNET
DOID:3690	brachial plexus neuropathy Aliases: Brachial plexus disorder brachial plexopathy	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:8443	brachial plexus lesion Aliases: Brachial plexus lesions	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:10383	amyotrophic neuralgia Aliases: neuralgic amyotrophy	CYP2B6 SMUG1	1555 23583	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	CYP2B6 SMUG1	1555 23583	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	ACADVL ACE CAT CYP21A2 HADHA MAN1B1 OTOA SERPINA12 UGGT1	11253 145264 146183 1589 1636 3030 37 56886 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3946	pituitary-dependent Cushing's disease Aliases: Overproduction of ACTH pituitary-dependent Cushing disease	CD14 CNTN3 CYP11B1 HSD11B1 HSD11B2 SMUG1	1584 23583 3290 3291 5067 929	Homo sapiens (human)	DisGeNET
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	CD14 CNTN3 CYP11B1 GAPDH HSD11B1 HSD11B2 SMUG1	1584 23583 2597 3290 3291 5067 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9988	tertiary neurosyphilis Aliases: late neurosyphilis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:8200	tertiary syphilis Aliases: late syphilis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:12265	chronic salpingo-oophoritis Aliases: chronic salpingitis and oophoritis chronic salpingitis/oophoritis	MSLN	10232	Homo sapiens (human)	DisGeNET
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13139	crescentic glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4776	rapidly progressive glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)	DisGeNET DisGeNET

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