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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 **3626 - 3650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	CHAT	1103	Homo sapiens (human)
DOID:5394	prolactinoma Aliases: PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma	CHGA CNTN3 CYP19A1 GAPDH HSD17B7 KLRK1 LGALS3 MACROD1 MGAM PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 QTRT1 SDHA SDHB SI	1113 1588 22914 2597 28992 3958 5067 51478 5290 5291 5293 5294 5743 6389 6390 6476 81890 8972	Homo sapiens (human)
DOID:4505	childhood angiosarcoma Aliases: paediatric angiosarcoma paediatric hemangiosarcoma pediatric angiosarcoma pediatric hemangiosarcoma	CHGA DCN PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SMUG1	1113 1634 23583 5290 5291 5293 5294 5335 5728	Homo sapiens (human)
DOID:6658	pulmonary large cell neuroendocrine carcinoma	CHGA ENO2 ENO3 IDH2 KL NCAM1 PGK1 SDHD	1113 2026 2027 3418 4684 5230 6392 9365	Homo sapiens (human)
DOID:1664	pineoblastoma Aliases: Pineal PNET	CHGA ENO2	1113 2026	Homo sapiens (human)
DOID:5032	pineal gland cancer Aliases: Pineocytic tumor malignant Pineal Region tumor malignant tumor of pineal gland neoplasm of pineal gland neoplasm of the Pineal Region pineal body neoplasm tumor of the pineal region	CHGA ENO2	1113 2026	Homo sapiens (human)
DOID:170	endocrine gland cancer Aliases: Endocrine tumor endocrine neoplasm malignant Endocrine tumor malignant neoplasm of endocrine gland malignant tumour of endocrine gland neoplasm of endocrine gland neoplasm of endocrine system	CHGA PTEN SDHB SDHC	1113 5728 6390 6391	Homo sapiens (human)
DOID:0060184	lymphocytic colitis	CHGA PTEN	1113 5728	Homo sapiens (human)
DOID:0060183	collagenous colitis	CHGA PTEN	1113 5728	Homo sapiens (human)
DOID:6740	cervix small cell carcinoma Aliases: small cell carcinoma of the Cervix Uteri	CHGA	1113	Homo sapiens (human)
DOID:6886	ureter small cell carcinoma Aliases: ureteral small cell carcinoma	CHGA	1113	Homo sapiens (human)
DOID:6132	bronchitis Aliases: CI - Chest infection Chest infection acute Bronchitis chest cold chronic bronchitis recurrent wheezy bronchitis	CHI3L1 CHID1 CYP1A1 CYP2B6 HPGDS ICAM1 MBL2 PLA2G6 PTGDS SFTPD	1116 1543 1555 27306 3383 4153 5730 6441 66005 8398	Homo sapiens (human)
DOID:9312	chronic ethmoiditis Aliases: chronic ethmoid sinusitis chronic ethmoidal sinusitis ethmoidal sinusitis - chronic	CHI3L1 CLC CYP11A1 CYP11B1 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IL1RL1 LYZ PGM3 PLB1 PTGDS PTGS1 SELE SFTPA1 SFTPD	10855 1116 1178 151056 1583 1584 27306 3290 3291 3383 4069 5238 5730 5742 6401 6441 653509 9173	Homo sapiens (human)
DOID:10793	chronic sphenoidal sinusitis Aliases: Sphenoidal sinus-chr.	CHI3L1 CLC CYP11A1 CYP11B1 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IL1RL1 LYZ PGM3 PLB1 PTGDS PTGS1 SELE SFTPA1 SFTPD	10855 1116 1178 151056 1583 1584 27306 3290 3291 3383 4069 5238 5730 5742 6401 6441 653509 9173	Homo sapiens (human)
DOID:13641	exfoliation syndrome Aliases: Pseudoexfoliation glaucoma Pseudoexfoliation syndrome	CHI3L1 DPM2 GGT1 HPGDS PTEN PTGS2 TLR4	1116 2678 27306 5728 5743 7099 8818	Homo sapiens (human)
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CHI3L1 FCER2 HPRT1 IL18R1 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG UNG	1116 2208 3251 4360 5290 5291 5293 5294 7374 8809	Homo sapiens (human)
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:6620	X-linked hyper IgM syndrome Aliases: HIGM1 X-linked hyper-IgM immunodeficiency XHIM hyper-IgM immunodeficiency syndrome type 1 hyper-IgM syndrome 1 hyper-IgM syndrome type 1 immunodeficiency with hyper-IgM type 1	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:0080544	hyper IgM syndrome Aliases: HIGM hyperimmunoglobulin M syndrome immunodeficiency with hyper-IgM	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:10606	blind loop syndrome Aliases: Bacterial overgrowth syndrome	CHI3L1 ICAM1 PLA2G7	1116 3383 7941	Homo sapiens (human)
DOID:3753	Hermansky-Pudlak syndrome	CHI3L1 LGALS3 PI4K2A SFTPA1 SFTPC SLC35D3	1116 340146 3958 55361 6440 653509	Homo sapiens (human)
DOID:0111168	sepiapterin reductase deficiency Aliases: DRD due to SRD SPR deficiency SRD dopa-responsive dystonia due to sepiapterin reductase deficiency	CHI3L1 MCEE	1116 84693	Homo sapiens (human)
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)
DOID:11695	portal vein thrombosis	CHI3L1 NAAA PC PIGM SELP SLC17A5 SMUG1	1116 23583 26503 27163 5091 6403 93183	Homo sapiens (human)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 TNF	1116 7124	Homo sapiens (human)

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