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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3226 - 3250** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	FOLR1 FOLR2	2348 2350	Homo sapiens (human)
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	ACAT1 FOLR1 L1CAM MBL2 MDH2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2348 38 3897 4153 4191 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:9565	dextrocardia Aliases: Heart predominantly in right hemithorax	INPP5E PKD1 TGDS	23483 5310 56623	Homo sapiens (human)
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)
DOID:7475	diverticulitis	ARSA CHPT1 CLEC7A FOLR2	2350 410 56994 64581	Homo sapiens (human)
DOID:11843	coronary artery anomaly Aliases: Congenital anomaly of coronary artery Coronary artery abnormality Coronary artery anomaly, congenital	PCYT1A POFUT1	23509 5130	Homo sapiens (human)
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)
DOID:0111266	geroderma osteodysplasticum Aliases: GO Walt Disney dwarfism geroderma osteodysplastica gerodermia osteodysplastica	ATP6V0A2 B3GAT3	23545 26229	Homo sapiens (human)
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	ABO ATP6V0A2 CANX GPI PDIA3	23545 28 2821 2923 821	Homo sapiens (human)
DOID:0111045	platelet-type bleeding disorder 9 Aliases: BDPLT9 GP Ia deficiency collagen platelet receptor deficiency glycoprotein Ia deficiency	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9 ATP6V0A2	23545 79796	Homo sapiens (human)
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	ATP6V0A2	23545	Homo sapiens (human)
DOID:0112171	wrinkly skin syndrome Aliases: WSS	ATP6V0A2	23545	Homo sapiens (human)
DOID:6245	renal oncocytoma Aliases: Oncocytoma of kidney renal epithelial Oncocytic tumor	AMACR CD44 HMMR HYAL4 LDHA PIK3CA PRSS8 PTGS2 SDC1 SLC2A2 SLC2A4	23553 23600 3161 3939 5290 5652 5743 6382 6514 6517 960	Homo sapiens (human)
DOID:0080216	duodenal atresia	GAS1 PIGN	23556 2619	Homo sapiens (human)
DOID:9423	blepharitis	MSMO1 PIGN PLCD1 SMC3	23556 5333 6307 9126	Homo sapiens (human)
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	23556	Homo sapiens (human)
DOID:683	motor neuritis Aliases: peripheral motor neuropathy	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)
DOID:1803	neuritis Aliases: peripheral neuritis	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)
DOID:12341	retroperitoneal sarcoma	ACSS2 PLA2G15 SMUG1	23583 23659 55902	Homo sapiens (human)
DOID:9091	REM sleep behavior disorder Aliases: REM sleep behaviour disorder Rapid eye movement sleep behavior disorder Rapid eye movement sleep behaviour disorder	GBA1 PAFAH1B1 PRNP SMUG1	23583 2629 5048 5621	Homo sapiens (human)
DOID:14256	adult-onset Still's disease Aliases: adult onset Still's disease adult-onset Still disease	CLEC7A GCK ICAM1 SELL SMUG1	23583 2645 3383 6402 64581	Homo sapiens (human)
DOID:0080031	fibrous dysplasia	APRT B3GAT1 PTGS2 SMUG1	23583 27087 353 5743	Homo sapiens (human)

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