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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 **5426 - 5450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	GPC3 PTEN	2719 5728	Homo sapiens (human)
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	GPC3 TKTL1	2719 8277	Homo sapiens (human)
DOID:4772	obsolete mesoblastic nephroma	GPC3	2719	Homo sapiens (human)
DOID:5299	endometrial clear cell adenocarcinoma Aliases: Clear cell carcinoma of Endometrium	GPC3	2719	Homo sapiens (human)
DOID:5681	ovarian embryonal carcinoma Aliases: Embryonal carcinoma of ovary Embryonal carcinoma of the Ovary	GPC3	2719	Homo sapiens (human)
DOID:4773	congenital mesoblastic nephroma	GPC3	2719	Homo sapiens (human)
DOID:5348	adult endodermal sinus tumor Aliases: adult Yolk Sac neoplasm adult endodermal sinus neoplasm	GPC3	2719	Homo sapiens (human)
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	GPC3	2719	Homo sapiens (human)
DOID:0080540	galactosialidosis	CTSA GLB1 HPRT1 NEU1	2720 3251 4758 5476	Homo sapiens (human)
DOID:1934	dysostosis	GLB1 LFNG	2720 3955	Homo sapiens (human)
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	GLB1 KL PLAUR	2720 5329 9365	Homo sapiens (human)
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	GLB1 PTGS2	2720 5743	Homo sapiens (human)
DOID:4423	sea-blue histiocytosis Aliases: Sea-blue histiocyte syndrome	GLB1 SMPD1	2720 6609	Homo sapiens (human)
DOID:1866	giant cell reparative granuloma Aliases: central giant cell (reparative) granuloma central giant cell granuloma central giant cell reparative granuloma of jaw	GLB1	2720	Homo sapiens (human)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	GNMT	27232	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:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2	27235	Homo sapiens (human)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)
DOID:120	female reproductive organ cancer Aliases: female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ	AMT HPGDS MRC1 PIK3CA UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	27306 275 4360 5290 54575 54576 54577 54578 54657 54658	Homo sapiens (human)
DOID:6082	childhood testicular germ cell tumor Aliases: paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN	27306 4360 5290 5291 5293 5294 5716 5728	Homo sapiens (human)
DOID:2253	cervix disease	CAT DGCR2 HPGDS MMUT PIK3CA RECK ST6GALNAC5	27306 4594 5290 81849 8434 847 9993	Homo sapiens (human)
DOID:8574	lichen disease	CALR CAT HPGDS PTGS2 XYLT2	27306 5743 64132 811 847	Homo sapiens (human)
DOID:11678	onchocerciasis Aliases: Infection by Onchocerca volvulus Onchocerca volvulus infection volvulosis	CALR HPGDS	27306 811	Homo sapiens (human)

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