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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 **651 - 675** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0060611	abdominal obesity-metabolic syndrome	LEP NEIL1 PPARGC1A	10891 3952 79661	Homo sapiens (human)
DOID:10605	short bowel syndrome Aliases: acquired short bowel syndrome short gut syndrome	LEP LEPR	3952 3953	Homo sapiens (human)
DOID:7910	maxillary sinus squamous cell carcinoma Aliases: Epidermoid carcinoma of the Maxillofacial sinus	LDHB MICA PNP	100507436 3945 4860	Homo sapiens (human)
DOID:5139	cellular leiomyoma	LDHA	3939	Homo sapiens (human)
DOID:3611	acute retinal necrosis syndrome Aliases: acute retinal necrosis	LCT	3938	Homo sapiens (human)
DOID:0111646	congenital lactase deficiency Aliases: CLD congenital alactasia congenital alactasia syndrome congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance II	LCT	3938	Homo sapiens (human)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	LARGE1	9215	Homo sapiens (human)
DOID:4376	milk allergy Aliases: milk allergic reaction	LALBA	3906	Homo sapiens (human)
DOID:1407	anterior uveitis	LACC1 TLR2 TLR4 TNF	144811 7097 7099 7124	Homo sapiens (human)
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	Homo sapiens (human)
DOID:5884	benign intermediate mesothelioma Aliases: Well-differentiated Papillary tumor of Mesothelium	L1CAM	3897	Homo sapiens (human)
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	L1CAM PIK3CA PTEN SMUG1	23583 3897 5290 5728	Homo sapiens (human)
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	KLRK1	22914	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:4231	histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)
DOID:4419	benign deep fibrous histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)
DOID:495	sclerosing hemangioma Aliases: Sclerosing haemangioma	KLRK1 MTAP	22914 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:4394	reticulohistiocytic granuloma Aliases: Reticulohistiocytoma solitary reticulohistiocytoma	KLRK1 LYZ MTAP	22914 4069 4507	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:6603	Kummell's disease Aliases: Kummell disease Kummell's spondylitis Traumatic spondylopathy	KL	9365	Homo sapiens (human)
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	KL PTEN	5728 9365	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:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)

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