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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2801 - 2825** of **4115** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	MED12	9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:10887	lepromatous leprosy Aliases: type L leprosy	HLA-DQA1 MBL2	3117 4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:1024	leprosy	HLA-DRB1 LTA NOD2 SLC11A1 TLR1 TLR2 TNF	3123 4049 64127 6556 7096 7097 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	ERBB3	2065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060654	lethal congenital contracture syndrome 4	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	ADCY6 ADGRG6 CNTNAP1 DNM2 GLDN NEK9	112 1785 342035 57211 8506 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2	51422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:1240	leukemia	ABO ACE ACSL6 AKR1C3 BCR FADD GPX1 NAT2 PDGFRA	10 1636 23305 28 2876 5156 613 8644 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:10579	leukodystrophy	AARS1	16	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070374	leukoencephalopathy with vanishing white matter 1	EIF2B1	1967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070372	leukoencephalopathy with vanishing white matter 3	EIF2B3	8891	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070371	leukoencephalopathy with vanishing white matter 4	EIF2B4	8890	Homo sapiens (human)	Alliance of Genome Resources
DOID:615	leukopenia Aliases: Leucopenia	CXCR4	7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:12986	leukostasis	SERPINF1	5176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050852	limb ischemia	CSF3 DLL4 EPO HGF NOS3 PTGIS	1440 2056 3082 4846 54567 5740	Homo sapiens (human)	Alliance of Genome Resources
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	FKRP	79147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	IL2 STAT4	3558 6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	HRAS KRAS NRAS	3265 3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	HCCS	3052	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111876	linear skin defects with multiple congenital anomalies 3 Aliases: LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	CPT1A CPT2 DHCR24 MVK NPY5R PPARA	1374 1376 1718 4598 4889 5465	Homo sapiens (human)	Alliance of Genome Resources

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