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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 **676 - 700** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0060847	Leri-Weill dyschondrosteosis	EXT1 EXT2	2131 2132	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: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: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	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: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:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	CYP19A1 LCT LGALS3 PTGES PTGS2 SMUG1	1588 23583 3938 3958 5743 9536	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: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: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	Trp53	22059	Mus musculus (house mouse)
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:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	CYP11B1 CYP11B2 CYP17A1 HSD11B2 PTGS2	1584 1585 1586 3291 5743	Homo sapiens (human)
DOID:9503	Loeffler syndrome Aliases: Loeffler's pneumonia Loffler's syndrome	ALPL CEL CHI3L1 HPGDS IL1R1 IL1RL1 ISYNA1 PARP9 PTGDS SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 27306 3554 51477 5730 83666 9173	Homo sapiens (human)
DOID:0050466	Loeys-Dietz syndrome	IDUA SLC2A10	3425 81031	Homo sapiens (human)
DOID:13087	Lown-Ganong-Levine syndrome Aliases: atrial tachyarrhythmia with short PR interval syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias	APRT ARSD B3GAT1 CNTN2 FCGR3B PRKAA2	2215 27087 353 414 5563 6900	Homo sapiens (human)
DOID:11729	Lyme disease Aliases: Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis	ACAN ALOX5 CALR CANX CD14 CD38 CD48 DAG1 DCN ENO1 ENO2 FCN2 FOLR2 GOLPH3 HACD1 HK1 HPGDS MBL2 PLAUR PTGES3 PTGS1 PTGS2 VCAM1	10728 1605 1634 176 2023 2026 2220 2350 240 27306 3098 4153 5329 5742 5743 64083 7412 811 821 9200 929 952 962	Homo sapiens (human)
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ARSA ARSI BAAT CD44 CEACAM5 CEACAM7 COMT CYP17A1 CYP1A1 CYP1B1 IGF2R MRC1 MUTYH NDUFAB1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2	1048 1087 1312 142 1543 1545 1586 340075 3482 410 4360 4595 4706 5290 5291 5293 5294 570 5728 5743 960	Homo sapiens (human)
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	B4GALNT1 CANX CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 821 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	FH PNP SDHB SORD	2271 4860 6390 6652	Homo sapiens (human)
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	EBP	10682	Homo sapiens (human)

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