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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 **4751 - 4775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:2431	glomus tumor Aliases: Glomus neoplasm Glomus tumour	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHB SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6390 6392 811 8809 8813 929	Homo sapiens (human)
DOID:277	chorioangioma Aliases: Placental hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:474	histiocytoid hemangioma Aliases: Angiolymphoid hyperplasia with eosinophilia epithelioid haemangioma epithelioid hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:468	intramuscular hemangioma Aliases: Intramuscular Angioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:255	hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GNPTAB GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG MTM1 MTMR14 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHB SDHC SDHD SLC2A1	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 4534 5281 5290 5291 5293 5294 5310 5476 57104 5728 6390 6391 6392 64419 6513 79158 811 8809 8813 929	Homo sapiens (human)
DOID:0060050	autoimmune disease of blood	C1GALT1	56913	Homo sapiens (human)
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	C14B9.8	176149	Caenorhabditis elegans
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	C14B9.8	176149	Caenorhabditis elegans
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	C14B9.8	176149	Caenorhabditis elegans
DOID:2747	glycogen storage disease Aliases: glycogenosis	C14B9.8 gsy-1 gyg-2 pfk-1.1 pfk-1.2	174924 176149 179335 180119 180583	Caenorhabditis elegans
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	C14B9.8 cts-1	176149 176437	Caenorhabditis elegans
DOID:5381	bile duct adenoma Aliases: Cholangioadenoma	Braf	109880	Mus musculus (house mouse)
DOID:4852	pleomorphic xanthoastrocytoma Aliases: Pleomorphic Xantho-astrocytoma	Braf	109880	Mus musculus (house mouse)
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	Braf	109880	Mus musculus (house mouse)
DOID:6846	familial melanoma	Braf	109880	Mus musculus (house mouse)
DOID:5742	pancreatic acinar cell adenocarcinoma Aliases: pancreatic acinar cell carcinoma	Braf	109880	Mus musculus (house mouse)
DOID:0060585	Noonan syndrome 7 Aliases: NS7	Braf	109880	Mus musculus (house mouse)
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	Braf	109880	Mus musculus (house mouse)
DOID:3304	germinoma	Braf	109880	Mus musculus (house mouse)
DOID:2571	Langerhans-cell histiocytosis Aliases: Histiocytosis X Langerhan's cell histiocytosis Langerhans cell granulomatosis Letterer-Siwe disease Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease involving lymph nodes of axilla and upper limb Letterer-Siwe disease involving lymph nodes of head, face and neck Letterer-Siwe disease involving lymph nodes of head, face, and neck Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb Letterer-Siwe disease involving lymph nodes of multiple sites Letterer-Siwe disease involving spleen Letterer-Siwe disease of intra-abdominal lymph nodes Letterer-Siwe disease of intrapelvic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of lymph nodes of axilla and upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of head, face and neck Letterer-Siwe disease of lymph nodes of head, face and/or neck Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb Letterer-Siwe disease of lymph nodes of inguinal region and lower limb Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of spleen	Braf	109880	Mus musculus (house mouse)
DOID:2679	dysembryoplastic neuroepithelial tumor Aliases: Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour	Braf	109880	Mus musculus (house mouse)
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	Braf	109880	Mus musculus (house mouse)
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	Braf	109880	Mus musculus (house mouse)
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	Braf Myc Trp53	109880 17869 22059	Mus musculus (house mouse)

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