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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 **2851 - 2875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	IDH3A	3419	Homo sapiens (human)
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	IDH2	854303	Saccharomyces cerevisiae S288C
DOID:439	neuromuscular junction disease	IDH2	854303	Saccharomyces cerevisiae S288C
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)
DOID:6951	telangiectatic osteogenic sarcoma Aliases: Telangiectatic osteosarcoma	IDH2	3418	Homo sapiens (human)
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)
DOID:369	olfactory neuroblastoma Aliases: Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma	IDH2 SMUG1	23583 3418	Homo sapiens (human)
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH1	855691	Saccharomyces cerevisiae S288C
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	IDH1 IDH2	854303 855691	Saccharomyces cerevisiae S288C
DOID:6458	cerebellar liponeurocytoma Aliases: Lipomatous Medulloblastoma	IDH1	3417	Homo sapiens (human)
DOID:14174	central neurocytoma Aliases: Neurolipocytoma	IDH1	3417	Homo sapiens (human)
DOID:4853	pilocytic astrocytoma of cerebellum Aliases: Cerebellar Pilocytic astrocytoma	IDH1	3417	Homo sapiens (human)
DOID:6098	thalamic neoplasm Aliases: malignant neoplasm of thalamus malignant tumor of Thalamus tumor of Thalamus	IDH1	3417	Homo sapiens (human)
DOID:3372	chondroblastic osteosarcoma Aliases: chondrosarcomatous Osteogenic sarcoma	IDH1	3417	Homo sapiens (human)
DOID:1659	supratentorial cancer Aliases: Brain neoplasm, Supratentorial malignant Supratentorial tumor	IDH1	3417	Homo sapiens (human)
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	IDH1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN TMED3	142 23423 3417 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0050754	ataxia with oculomotor apraxia type 1	IDH1 OGG1 PARP1 SDHA STS	142 3417 412 4968 6389	Homo sapiens (human)
DOID:7642	cholangiolocellular carcinoma	IDH1 NCAM1 PTEN	3417 4684 5728	Homo sapiens (human)
DOID:0060123	connective tissue benign neoplasm Aliases: mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue	IDH1 IL1R1 NANS OGA SMUG1	10724 23583 3417 3554 54187	Homo sapiens (human)
DOID:6677	diffuse infiltrative lymphocytosis syndrome	IDH1 IDH2	3417 3418	Homo sapiens (human)
DOID:1835	mononeuritis multiplex	IDH1 IDH2 SDHD	3417 3418 6392	Homo sapiens (human)
DOID:1188	mononeuropathy	IDH1 IDH2 SDHD	3417 3418 6392	Homo sapiens (human)
DOID:6812	childhood pilocytic astrocytoma Aliases: pediatric Pilocytic astrocytoma	IDH1 IDH2 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	142 3417 3418 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	IDH1 IDH2 LEP LEPR	3417 3418 3952 3953	Homo sapiens (human)
DOID:0050573	2-hydroxyglutaric aciduria	IDH1 IDH2 L2HGDH SLC25A1	3417 3418 6576 79944	Homo sapiens (human)

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