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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 **2776 - 2800** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0110349	osteogenesis imperfecta type 9 Aliases: OI9 osteogenesis imperfecta type IX	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110335	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:8549	chronic ulcer of skin Aliases: Callous ulcer Indolent ulcer	CLEC7A DCN GALNS GBE1 ICAM1 IDH1 IDH2 NCAM1 OCRL OGT PGM3 PIGL PIK3CA PIK3CB PIK3CD	1634 2588 2632 3383 3417 3418 4684 4952 5238 5290 5291 5293 64581 8473 9487	Homo sapiens (human)
DOID:4305	bone giant cell tumor Aliases: Giant cell neoplasm of bone Giant cell tumor of bone Giant cell tumour of bone bone giant cell tumour	CD14 CTSA DCN GPX1 IDH2 PLAUR	1634 2876 3418 5329 5476 929	Homo sapiens (human)
DOID:14292	vulvar dystrophy Aliases: Dystrophy of vulva	DCN IDH1 IDH2	1634 3417 3418	Homo sapiens (human)
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	DCN ENPP1 LSS	1634 4047 5167	Homo sapiens (human)
DOID:4959	epidermolysis bullosa dystrophica Aliases: Dystrophic epidermolysis bullosa	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)
DOID:4680	breast metaplastic carcinoma Aliases: Metaplastic carcinoma of the breast	DCN PIK3CA PIK3CB PIK3CD PIK3CG	1634 5290 5291 5293 5294	Homo sapiens (human)
DOID:13945	CADASIL Aliases: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy hereditary multi-infarct dementia	CTSA DCN	1634 5476	Homo sapiens (human)
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	CTSA DCN	1634 5476	Homo sapiens (human)
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	DCN	1634	Homo sapiens (human)
DOID:0060452	posterior amorphous corneal dystrophy Aliases: PACD chromosome 12q21.33 deletion syndrome	DCN	1634	Homo sapiens (human)
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)
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)
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)
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)
DOID:12185	otosclerosis	ACE SLC26A2	1636 1836	Homo sapiens (human)
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)
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)
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: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: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)

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