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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:5695	childhood liposarcoma Aliases: pediatric liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)
DOID:5693	adult liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2	27235	Homo sapiens (human)
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	COMT	1312	Homo sapiens (human)
DOID:0090054	episodic kinesigenic dyskinesia 2	COMT	1312	Homo sapiens (human)
DOID:10646	schizotypal personality disorder	COMT	1312	Homo sapiens (human)
DOID:10632	Wolfram syndrome Aliases: WFS	COMT	1312	Homo sapiens (human)
DOID:0060165	Kleine-Levin syndrome	COMT SMUG1	1312 23583	Homo sapiens (human)
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	COMT SFTPC	1312 6440	Homo sapiens (human)
DOID:9427	hypertensive encephalopathy	COMT PPARA	1312 5465	Homo sapiens (human)
DOID:0080169	tricuspid atresia	COMT PLD1	1312 5337	Homo sapiens (human)
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	COMT LDHA PIK3CA PIK3CB PIK3CD PIK3CG PTDSS1 PTEN SMUG1 VCAN	1312 1462 23583 3939 5290 5291 5293 5294 5728 9791	Homo sapiens (human)
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	COMT LCT	1312 3938	Homo sapiens (human)
DOID:2745	narcissistic personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)
DOID:1509	avoidant personality disorder Aliases: anxious personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	COMT GNE PIK3C2A	10020 1312 5286	Homo sapiens (human)
DOID:0060001	withdrawal disorder	COMT GAD1 GAD2 HTR2A	1312 2571 2572 3356	Homo sapiens (human)
DOID:11507	rumination disorder Aliases: Psychogenic rumination	COMT FUT3 IDS	1312 2525 3423	Homo sapiens (human)
DOID:8941	seborrheic infantile dermatitis Aliases: Complement 5 dysfunction Generalized seborrheic dermatitis of infants Infantile seborrheic dermatitis Infantile seborrhoeic dermatitis Pityriasis capitis Seborrhea sicca Seborrhoea capitis Seborrhoeic dermatitis of scalp Seborrhoeic eczema of scalp cradle cap seborrhea capitis	COMT CYP51A1 PIK3CA	1312 1595 5290	Homo sapiens (human)
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)
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	COMT CYP2B6	1312 1555	Homo sapiens (human)
DOID:9974	drug dependence	COMT CYP2B6 NCAM1	1312 1555 4684	Homo sapiens (human)
DOID:11382	corneal neovascularization	COMT CYP1B1 DCN GLB1 ICAM1 LGALS3 NGLY1	1312 1545 1634 2720 3383 3958 55768	Homo sapiens (human)
DOID:0060263	porencephaly	COLGALT1	79709	Homo sapiens (human)

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