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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 **401 - 425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0050689	brachydactyly-syndactyly syndrome	MBOAT1	154141	Homo sapiens (human)	DisGeNET
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	9126	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080033	craniometaphyseal dysplasia	ACE CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 1605 1636 2218 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)	DisGeNET
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	CYP17A1	1586	Homo sapiens (human)	DisGeNET
DOID:0080220	obsolete major affective disorder 1	ACE COMT DGKH GAD1 IMPA2 NCAM1 NPL PFKL PIP4K2A PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 3613 4684 5211 5305 5320 5321 6609 80896 8398 8399	Homo sapiens (human)	DisGeNET
DOID:0060784	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Aliases: EEC syndrome 1 EEC1	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0060782	EEC syndrome Aliases: Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0060783	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Aliases: EEC syndrome 3 EEC3	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	COMT LDHA PIK3CA PIK3CB PIK3CD PIK3CG PTDSS1 PTEN SMUG1 VCAN	1312 1462 23583 3939 5290 5291 5293 5294 5728 9791	Homo sapiens (human)	DisGeNET
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	ALPP ANXA5 ATRNL1 B3GAT1 CEACAM5 CEACAM7 COMT DCN ENO2 FCGR3B ICAM1 LTA4H NCAM1 PKM SCD SMUG1 TKT VTCN1	1048 1087 1312 1634 2026 2215 23583 250 26033 27087 308 3383 4048 4684 5315 6319 7086 79679	Homo sapiens (human)	DisGeNET
DOID:5509	childhood ependymoma	AKR1A1 ASAH1 CALR CD44 IDH1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN	10327 3417 3897 427 5290 5291 5293 5294 5728 811 960	Homo sapiens (human)	DisGeNET
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111350	Laurin-Sandrow syndrome Aliases: MIPduplication of fibuland ulna with absence of tibia and radius Sandrow syndrome TMIP miccor hands and feet with nasal defects mirror hands and feets-nasal defects syndrome mirror-image polydactyly tetramelic mirror-image polydactyly	AGXT COL9A2	1298 189	Homo sapiens (human)	DisGeNET
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:10540	gastric lymphoma Aliases: Lymphoma of the stomach	CEL CHST2 FCER2 HPGDS PARP9 PTGS1 PTGS2 SELL SLC27A5 SMUG1	1056 10998 2208 23583 27306 5742 5743 6402 83666 9435	Homo sapiens (human)	DisGeNET
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Aliases: MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma	CEL CHST2 FCER2 HPGDS PARP9 PTGS1 PTGS2 SELL SLC27A5 SMUG1	1056 10998 2208 23583 27306 5742 5743 6402 83666 9435	Homo sapiens (human)	DisGeNET
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	AGRN	375790	Homo sapiens (human)	DisGeNET
DOID:0060346	Native American myopathy Aliases: Bailey-Bloch congenital myopathy congenital myopathy 13	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0080141	mosaic variegated aneuploidy syndrome 1	CNTN3	5067	Homo sapiens (human)	DisGeNET
DOID:0060288	omodysplasia	CD44 GPC6	10082 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090059	enhanced S-cone syndrome	NYX	60506	Homo sapiens (human)	DisGeNET

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