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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 **7251 - 7275** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	CYP11B1 CYP11B2 CYP17A1 HSD11B2 PTGS2	1584 1585 1586 3291 5743	Homo sapiens (human)
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	Trp53	22059	Mus musculus (house mouse)
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	Trp53	22059	Mus musculus (house mouse)
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	CYP19A1 LCT LGALS3 PTGES PTGS2 SMUG1	1588 23583 3938 3958 5743 9536	Homo sapiens (human)
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	Igf2 Pcna	24483 25737	Rattus norvegicus (Norway rat)
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	ACE ACHE ANXA5 ASAH1 CHI3L1 COMT CYP2B6 DLD ENO2 EPHX2 GBA1 IGF2 IGF2R IMPA1 LGALS3 MAG MASP1 OGA PCNA PDHA1 PLA2G6 PLCG2 PRNP PTGS2 SMUG1 SUCLA2 TIGAR VCAM1	10724 1116 1312 1555 1636 1738 2026 2053 23583 2629 308 3481 3482 3612 3958 4099 427 43 5111 5160 5336 5621 5648 57103 5743 7412 8398 8803	Homo sapiens (human)
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	Gba1 Igf2 Pcna	14466 16002 18538	Mus musculus (house mouse)
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	gba-1 gba-2 gba-3 gba-4	173574 177314 178535 183155	Caenorhabditis elegans
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	prtfdc1	100124954	Xenopus tropicalis (tropical clawed frog)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APRT HPRT1 PNP	3251 353 4860	Homo sapiens (human)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	15452	Mus musculus (house mouse)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	24465	Rattus norvegicus (Norway rat)
DOID:0060847	Leri-Weill dyschondrosteosis	EXT1 EXT2	2131 2132	Homo sapiens (human)
DOID:0111507	Lenz-Majewski hyperostotic dwarfism Aliases: Lenz-Majewski syndrome	PTDSS1	9791	Homo sapiens (human)
DOID:0050561	Lennox-Gastaut syndrome Aliases: Lennox syndrome	ABAT CYP46A1 DGKD EXT1	10858 18 2131 8527	Homo sapiens (human)
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	DLD ECHS1 GYG2 HIBCH HSD17B6 MRC1 OGDH PDHA1 PDHB PDHX PGD PTGS1 SDHA SDHB SDHC SLC39A8 SUCLA2 SUCLG1 TKT TYMP	1738 1890 1892 26275 4360 4967 5160 5162 5226 5742 6389 6390 6391 64116 7086 8050 8630 8802 8803 8908	Homo sapiens (human)
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	MBL2	4153	Homo sapiens (human)
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	EXT1 GNPTAB INPP5K NAGLU SLC2A10	2131 4669 51763 79158 81031	Homo sapiens (human)
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	ACE AKR1B1 CAT ENO2 GGT1 PGD TP53	1636 2026 231 2678 5226 7157 847	Homo sapiens (human)
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	Tp53	24842	Rattus norvegicus (Norway rat)

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