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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 **6476 - 6500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0090023	split hand-foot malformation 4 Aliases: SHFM4	QTRT1 UGT8	7368 81890	Homo sapiens (human)	DisGeNET
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	QTRT1 UGT8	7368 81890	Homo sapiens (human)	DisGeNET
DOID:0090027	split hand-foot malformation 2 Aliases: SHFM2	QTRT1 UGT8	7368 81890	Homo sapiens (human)	DisGeNET
DOID:0090025	split hand-foot malformation 3 Aliases: SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia	QTRT1 UGT8	7368 81890	Homo sapiens (human)	DisGeNET
DOID:467	venous hemangioma	LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG TM7SF2	3958 5290 5291 5293 5294 7108	Homo sapiens (human)	DisGeNET
DOID:0111195	erythrokeratodermia variabilis et progressiva 1	ELOVL4 KDSR	2531 6785	Homo sapiens (human)	DisGeNET
DOID:0050467	erythrokeratodermia variabilis Aliases: Erythrokeratodermia Figurata Variabilis Greither Disease	ELOVL4 KDSR	2531 6785	Homo sapiens (human)	DisGeNET
DOID:0050474	Netherton syndrome	ACE GBA1 ICAM1 PTGS2	1636 2629 3383 5743	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2729	dyskeratosis congenita Aliases: DKCD	GALNT3 GOLPH3 HPSE2 TECR TP53	2591 60495 64083 7157 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080216	duodenal atresia	GAS1 PIGN	23556 2619	Homo sapiens (human)	DisGeNET
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	ACE	1636	Homo sapiens (human)	DisGeNET
DOID:0080204	renal hypoplasia	B3GLCT COMT	1312 145173	Homo sapiens (human)	DisGeNET
DOID:0090130	cortical dysplasia-focal epilepsy syndrome Aliases: CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 5048 50814 51227 523 55624 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	CD38 CEACAM5 CEACAM7 CMAS	1048 1087 55907 952	Homo sapiens (human)	DisGeNET
DOID:0060287	cornea plana Aliases: flat cornea	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 DCN EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 1634 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060673	Peters anomaly	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060282	persistent hyperplastic primary vitreous	CRPPA	729920	Homo sapiens (human)	DisGeNET
DOID:0060188	jejunoileitis	FUT2 LYZ PLA2G1B PLA2G2A PLA2G6 PLB1	151056 2524 4069 5319 5320 8398	Homo sapiens (human)	DisGeNET
DOID:0060191	gastroduodenal Crohn's disease Aliases: upper GI Crohn's disease	FUT2 LYZ PLA2G1B PLA2G2A PLA2G6 PLB1	151056 2524 4069 5319 5320 8398	Homo sapiens (human)	DisGeNET
DOID:5728	diffuse peritoneal leiomyomatosis Aliases: leiomyomatosis peritonealis disseminata	CYP19A1	1588	Homo sapiens (human)	DisGeNET
DOID:3118	hepatobiliary disease Aliases: liver and biliary tract disease	AKR1B1	231	Homo sapiens (human)	DisGeNET
DOID:14271	acute cholangitis	CAT	847	Homo sapiens (human)	DisGeNET
DOID:9439	chronic cholangitis	PKM	5315	Homo sapiens (human)	DisGeNET
DOID:13316	exocrine pancreatic insufficiency Aliases: EPI	ATP6AP1 CEL CTNS HPGDS HSD17B6 OGG1	1056 1497 27306 4968 537 8630	Homo sapiens (human)	DisGeNET
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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