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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 **5276 - 5300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	KL PKD1 PTGS2 SDHD	5310 5743 6392 9365	Homo sapiens (human)
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	KL PTEN	5728 9365	Homo sapiens (human)
DOID:6603	Kummell's disease Aliases: Kummell disease Kummell's spondylitis Traumatic spondylopathy	KL	9365	Homo sapiens (human)
DOID:8568	infectious mononucleosis Aliases: Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis	KLRD1 NCAM1	3824 4684	Homo sapiens (human)
DOID:4394	reticulohistiocytic granuloma Aliases: Reticulohistiocytoma solitary reticulohistiocytoma	KLRK1 LYZ MTAP	22914 4069 4507	Homo sapiens (human)
DOID:12148	alveolar echinococcosis Aliases: Multilocular hydatid alveolococcosis small fox tapeworm	KLRK1 MICA SMUG1 TLR2	100507436 22914 23583 7097	Homo sapiens (human)
DOID:495	sclerosing hemangioma Aliases: Sclerosing haemangioma	KLRK1 MTAP	22914 4507	Homo sapiens (human)
DOID:4231	histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)
DOID:4419	benign deep fibrous histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 VCAM1	22914 5290 5291 5293 5294 5728 7412 81031	Homo sapiens (human)
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	KLRK1	22914	Homo sapiens (human)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	Kcnj11	16514	Mus musculus (house mouse)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	16514	Mus musculus (house mouse)
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	Kcnj11 Ppargc1a	83516 83535	Rattus norvegicus (Norway rat)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	83535	Rattus norvegicus (Norway rat)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	Kcnj11	83535	Rattus norvegicus (Norway rat)
DOID:4440	seminoma Aliases: Seminoma, Pure	Kcnq1 Pcna Tymp	16535 18538 72962	Mus musculus (house mouse)
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	Kcnq1 Tlr2 Tnf	16535 21926 24088	Mus musculus (house mouse)
DOID:0050793	short QT syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:5572	Beckwith-Wiedemann syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:10273	heart conduction disease Aliases: heart rhythm disease	Kcnq1	16535	Mus musculus (house mouse)
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	Kcnq1	16535	Mus musculus (house mouse)

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