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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 **1801 - 1825** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1 Aliases: CVPT1 arrhythmogenic right ventricular dysplasia 2	ACADVL ACE CALR CHPT1 CNTN3 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD THEM5	1636 2523 284486 2992 37 5067 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:12986	leukostasis	ACE ALOX15 ICAM1 PNPLA2 VCAM1	1636 246 3383 57104 7412	Homo sapiens (human)
DOID:10762	portal hypertension	ACE ALOX5 CALR EOGT GBE1 INPP5E ISYNA1 LGALS3 LGALS9 NAAA NR1D1 PIGM PNPLA3 PTEN PTGS1 PTGS2 TM7SF2 TNF	1636 240 2632 27163 285203 3958 3965 51477 56623 5728 5742 5743 7108 7124 80339 811 93183 9572	Homo sapiens (human)
DOID:559	acute pyelonephritis	ACE ICAM1 MBL2 PTGS2 RBP4 SMUG1 UGT1A1	1636 23583 3383 4153 54658 5743 5950	Homo sapiens (human)
DOID:118	pericardial effusion	ACADVL ACE ALG9 CAT GBA1 PMM2 PTGS2 SMUG1	1636 23583 2629 37 5373 5743 79796 847	Homo sapiens (human)
DOID:11482	hemopericardium Aliases: Haemopericardium	ACADVL ACE ALG9 CAT GBA1 PMM2 PTGS2 SMUG1	1636 23583 2629 37 5373 5743 79796 847	Homo sapiens (human)
DOID:13543	hyperparathyroidism	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)
DOID:3341	osteitis fibrosa Aliases: Osteitis fibrosa cystica generalisata Von Recklinghausen's bone disease hyperparathyroid bone disease	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)
DOID:0050905	inflammatory myofibroblastic tumor	ACE AMACR IL1R1 PIK3CA PTGS2 SMUG1	1636 23583 23600 3554 5290 5743	Homo sapiens (human)
DOID:0111112	nephronophthisis 1 Aliases: NPH1 NPHP1 juvenile nephronophthisis 1	ACE MLYCD STS UMOD	1636 23417 412 7369	Homo sapiens (human)
DOID:986	alopecia areata Aliases: Circumscribed alopecia	ABO ACE CLEC16A ICAM1 LGALS8 SOAT1	1636 23274 28 3383 3964 6646	Homo sapiens (human)
DOID:1209	nutritional optic neuropathy	ACE ACO2 AKR1B1 PRPS1 PTEN	1636 231 50 5631 5728	Homo sapiens (human)
DOID:4079	heart valve disease Aliases: Valvular heart disease	ACACA ACE CALR FDPS GALNT1 IDS IL1R1 LRP5 TNF	1636 2224 2589 31 3423 3554 4041 7124 811	Homo sapiens (human)
DOID:0080379	nephrotic syndrome type 2 Aliases: steroid-resistant autosomal recessive nephrotic syndrome	ACE ANXA5 FCGR3B PLA2G7 PLCE1	1636 2215 308 51196 7941	Homo sapiens (human)
DOID:10780	primary polycythemia Aliases: Familiar Polycythemia familial erythrocytosis	ACE CD177 FCER2 PKLR SLC17A5	1636 2208 26503 5313 57126	Homo sapiens (human)
DOID:11840	coronary artery vasospasm Aliases: Coronary Vasospasm Coronary artery spasm	ACE ALDH2 PLA2G7 PLCD1	1636 217 5333 7941	Homo sapiens (human)
DOID:12157	aseptic meningitis Aliases: acute aseptic meningitis	ACE ENO2 ICAM1 MRC1 TPI1	1636 2026 3383 4360 7167	Homo sapiens (human)
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	ACE AKR1B1 CAT ENO2 GGT1 PGD TP53	1636 2026 231 2678 5226 7157 847	Homo sapiens (human)
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	ACE ENO2 FCGR3B FUT2 HSPG2 MBL2 SELL SLC5A1 TNF	1636 2026 2215 2524 3339 4153 6402 6523 7124	Homo sapiens (human)
DOID:13088	periventricular leukomalacia	ACE ECHS1 EOGT PC PLA2G6 PMM2 SFTPD TNF TPI1	1636 1892 285203 5091 5373 6441 7124 7167 8398	Homo sapiens (human)
DOID:10300	Raynaud disease Aliases: Raynaud's disease Raynaud's syndrome	ACE AGXT ANXA5 CAT CNTN3 GAD1 SDHC	1636 189 2571 308 5067 6391 847	Homo sapiens (human)
DOID:0050820	atrioventricular block Aliases: AV block	ACADVL ACE AGXT APRT ARSD CACNA2D1 CALR GLA MTM1 PKD2 SMUG1	1636 189 23583 2717 353 37 414 4534 5311 781 811	Homo sapiens (human)
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	ACE AGXT ALDH3A2 MLYCD UMOD	1636 189 224 23417 7369	Homo sapiens (human)
DOID:12712	nephronophthisis Aliases: medullary cystic disease medullary cystic kidney	ACE AGXT ALDH3A2 LGALS1 MLYCD UMOD	1636 189 224 23417 3956 7369	Homo sapiens (human)
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ABO ACE AGXT ALG1 APRT CD14 CD248 CLEC7A EXT1 GRHPR HPSE2 ICAM1 MBL2 PCYT1B PNP PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPD SLC3A1 SRD5A2 UMOD	1636 189 2131 28 3383 353 4153 4860 56052 57124 5742 5743 60495 6441 64581 6519 653509 6716 729238 7369 929 9380 9468	Homo sapiens (human)

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