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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 **2801 - 2825** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	ATP6AP1	537	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:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG	7374	Homo sapiens (human)
DOID:0060758	immunodeficiency with hyper-IgM type 2 Aliases: AID deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2	UNG	7374	Homo sapiens (human)
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:8503	impetigo herpetiformis	IL1RL2 LDHA	3939 8808	Homo sapiens (human)
DOID:8504	impetigo	GALNS	2588	Homo sapiens (human)
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ACE ACHE ACSS2 AKT1 ALDH7A1 BAD CDH13 CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1 TNF	1012 148738 1588 1636 2026 207 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 572 6382 6646 7124 9394	Homo sapiens (human)
DOID:10937	impulse control disorder	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:8719	in situ carcinoma	AKT1 ALOX5 ALPL CD33 CD44 HPSE HSPG2 IGF2R LDHB MMP25 MMUT MRC1 PDHX PIK3CA PKM PLD2 PTEN PTGES PTGS2 SDHB STS	10855 207 240 249 3339 3482 3945 412 4360 4594 5290 5315 5338 5728 5743 6390 64386 8050 945 9536 960	Homo sapiens (human)
DOID:3401	inappropriate ADH syndrome Aliases: SIADH syndrome of Inappropriate Antidiuretic Hormone Secretion syndrome of inappropriate secretion of ADH syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate vasopressin secretion	ACE COMT	1312 1636	Homo sapiens (human)
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia Aliases: IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia	GNE MASP1 TNF	10020 5648 7124	Homo sapiens (human)
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Aliases: IBMPFD1 MSP1 multisystem proteinopathy 1	GNE MASP1	10020 5648	Homo sapiens (human)
DOID:3429	inclusion body myositis	ACLY ACOT7 CAT CD38 CD44 CHST3 CYP11A1 CYP17A1 CYP2C19 DAG1 DCN GNE HK1 ICAM1 ISYNA1 PAFAH1B1 PRNP PTEN RENBP SDC1 SIRT2	10020 11332 1557 1583 1586 1605 1634 22933 3098 3383 47 5048 51477 5621 5728 5973 6382 847 9469 952 960	Homo sapiens (human)
DOID:13800	inclusion conjunctivitis Aliases: Chlamydial conjunctivitis Inclusion blennorrhoea adult inclusion conjunctivitis inclusion blenorrhea	CALR PTGS2 SMUG1	23583 5743 811	Homo sapiens (human)
DOID:4660	indolent systemic mastocytosis Aliases: ISM	CALR CD33 CD38 CEL ETNK1 FCER2 FH HS2ST1 ICAM1 IDH2 PLA2G2E SMPD1	1056 2208 2271 30814 3383 3418 55500 6609 811 945 952 9653	Homo sapiens (human)
DOID:11603	infant gynecomastia Aliases: Neonatal gynaecomastia breast engorgement in newborn	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1 SRGN	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5552 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:0050444	infantile Refsum disease Aliases: infantile phytanic acid storage disease	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)
DOID:0080198	infantile histiocytoid cardiomyopathy	IL1RL1	9173	Homo sapiens (human)
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)
DOID:8568	infectious mononucleosis Aliases: Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis	KLRD1 NCAM1	3824 4684	Homo sapiens (human)
DOID:0060000	infective endocarditis	ACE ARSD CHPT1 ENO1 GPI ICAM1 MANEA MTM1 PCYT1A SMUG1 TLR6	10333 1636 2023 23583 2821 3383 414 4534 5130 56994 79694	Homo sapiens (human)

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