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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 **4401 - 4425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111112	nephronophthisis 1 Aliases: NPH1 NPHP1 juvenile nephronophthisis 1	ACE MLYCD STS UMOD	1636 23417 412 7369	Homo sapiens (human)	DisGeNET
DOID:986	alopecia areata Aliases: Circumscribed alopecia	ABO ACE CLEC16A ICAM1 LGALS8 SOAT1	1636 23274 28 3383 3964 6646	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1209	nutritional optic neuropathy	ACE ACO2 AKR1B1 PRPS1 PTEN	1636 231 50 5631 5728	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10780	primary polycythemia Aliases: Familiar Polycythemia familial erythrocytosis	ACE CD177 FCER2 PKLR SLC17A5	1636 2208 26503 5313 57126	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11840	coronary artery vasospasm Aliases: Coronary Vasospasm Coronary artery spasm	ACE ALDH2 PLA2G7 PLCD1	1636 217 5333 7941	Homo sapiens (human)	DisGeNET
DOID:12157	aseptic meningitis Aliases: acute aseptic meningitis	ACE ENO2 ICAM1 MRC1 TPI1	1636 2026 3383 4360 7167	Homo sapiens (human)	DisGeNET DisGeNET
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)	DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET Alliance of Genome Resources
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)	DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET DisGeNET
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)	DisGeNET DisGeNET
DOID:4562	subacute bacterial endocarditis Aliases: Endocarditis lenta SBE - Subacute bacterial endocarditis Subacute endocarditis, lenta	ACE AGXT ARSD CAT CHPT1 CLEC16A DHDDS ENO1 GPI GPX1 ICAM1 MANEA MTM1 PCYT1A PTGS2 SIGLEC6 SMUG1	1636 189 2023 23274 23583 2821 2876 3383 414 4534 5130 56994 5743 79694 79947 847 946	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12185	otosclerosis	ACE SLC26A2	1636 1836	Homo sapiens (human)	DisGeNET
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	ACE ANXA5 DLAT EFNA1 EOGT GUSB ICAM1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 VCAM1	1636 1737 1942 23583 285203 2990 308 3383 5130 5290 5291 5293 5294 5728 7412	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	ACE ARSD CFC1 CLEC1B DHCR7 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG	1636 1717 414 51266 5130 5290 5291 5293 5294 55997	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060452	posterior amorphous corneal dystrophy Aliases: PACD chromosome 12q21.33 deletion syndrome	DCN	1634	Homo sapiens (human)	DisGeNET
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	DCN	1634	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	CTSA DCN	1634 5476	Homo sapiens (human)	DisGeNET

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