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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 **2176 - 2200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	ALDH7A1 AMACR ANXA5 CD14 CD44 CD55 CMAS CYP1A2 CYP1B1 CYP2C8 EPHX2 FASN HSD11B1 L1CAM LDHA LYZ MCAT MGLL MTAP NCAM1 NDST1 PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCB4 PTEN PTGS2 SDHA SDHB SDHC SDHD SELP SLC2A4 SMUG1 SOAT1 SORD TKTL1 VCAN	11343 1462 1544 1545 1558 1604 2053 2194 23583 23600 27349 308 3290 3340 3897 3939 4069 4507 4684 501 5286 5290 5291 5293 5294 5315 5332 55907 5728 5743 6389 6390 6391 6392 6403 6517 6646 6652 8277 929 960	Homo sapiens (human)
DOID:308	early myoclonic encephalopathy Aliases: Epileptic seizures - myoclonic Epileptic seizures, myoclonic Myoclonic seizure Myoclonic seizure disorder myoclonia epileptica myoclonic epilepsy	ALDH7A1 AMT ARSA ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS EPM2A GBA1 GCSH GLDC GLYCTK HEXB HIBCH HMGCL INPP4A ISYNA1 MECR NAGA NEU1 NGLY1 PFKL PGAP2 PGAP3 PIGA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1 TMED9	10715 1203 132158 1557 1593 23236 26275 2629 2653 2731 27315 275 284098 3074 3155 3631 410 427 4668 4758 501 51102 51227 51477 5211 523 5277 5286 54732 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	ALDH7A1 AMT CYP2C19 GAPDH GPC3 HK2 IDH3A IDH3B IDH3G PIGA PIGP PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PRKAA2 SMUG1 ST3GAL3 SYNJ1	1557 23236 23583 2597 2719 275 3099 3419 3420 3421 501 51227 5277 5290 5291 5293 5294 5563 6487 8867 9091	Homo sapiens (human)
DOID:0050439	Usher syndrome	ALDH7A1 ARSG ASAH1 PLD4	122618 22901 427 501	Homo sapiens (human)
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	ALDH7A1 CAT CYP7A1 MMUT PEMT SCD	10400 1581 4594 501 6319 847	Homo sapiens (human)
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	ALDH7A1 CYP2C19 GAPDH	1557 2597 501	Homo sapiens (human)
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	ALDH7A1 EPM2A	501 7957	Homo sapiens (human)
DOID:0060171	obsolete Dravet syndrome	ALDH7A1 EPM2A	501 7957	Homo sapiens (human)
DOID:0060744	Pendred Syndrome Aliases: TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)
DOID:12175	dyshormonogenic goiter Aliases: dyshormonogenic goitre	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)
DOID:0110826	Usher syndrome type 1 Aliases: US1 USH1	ALDH7A1 RPE STS	412 501 6120	Homo sapiens (human)
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)
DOID:0080543	hyperprolinemia type 2 Aliases: hyperprolinemia type II	ALDH7A1	501	Homo sapiens (human)
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	ALDOA APRT CD44 CEACAM5 CYP1A1 DLAT ENPP1 ENPP3 HK2 IDH2 MGAT5 MSLN PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2	10232 1048 1543 1737 226 3099 3418 353 4249 5167 5169 5290 5291 5293 5294 5728 5743 960	Homo sapiens (human)
DOID:14219	renal tubular acidosis	ALDOB ATP6V0A2 CANX CPT1A CYP11B1 CYP11B2 CYP24A1 OCRL PC PFKM PFKP	1374 1584 1585 1591 229 23545 4952 5091 5213 5214 821	Homo sapiens (human)
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	ALDOB GUSB TNF	229 2990 7124	Homo sapiens (human)
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB KHK	229 3795	Homo sapiens (human)
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	ALDOB	229	Homo sapiens (human)
DOID:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 CD44 PARG PARP1	142 230 468 8505 960	Homo sapiens (human)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1 ALG1L2	56052 644974	Homo sapiens (human)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	ALG1 CD74 CYP17A1 CYP1A1 DCN DHCR24 GOLPH3 PIK3CA PTEN STS	1543 1586 1634 1718 412 5290 56052 5728 64083 972	Homo sapiens (human)

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