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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 **5776 - 5800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0090050	dystonia 27	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090037	torsion dystonia 13	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090039	torsion dystonia 6	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090046	dystonia 21	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090055	dystonia 25	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090043	dystonia 5	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0090048	dystonia 16	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090056	dystonia 12	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090057	X-linked dystonia-parkinsonism	ALDH5A1 PGK1	5230 7915	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	ALDH5A1 ME2 NPL	4200 7915 80896	Homo sapiens (human)	DisGeNET
DOID:4890	juvenile myoclonic epilepsy	ALDH5A1 EXT1 NPL	2131 7915 80896	Homo sapiens (human)	DisGeNET
DOID:0060478	Zika fever Aliases: Zika virus disease	ALDH5A1 B3GAT1 CAT CD14 CD48 CH25H FCGR3B GAPDH GNE ISYNA1 MOGS PARP12 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG RPE SELP SMPD3 SOAT1	10020 142 2215 2597 27087 2923 51477 5290 5291 5293 5294 55512 6120 6403 64761 6646 7841 7915 847 9023 929 962	Homo sapiens (human)	DisGeNET
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	ALDH5A1 ASAH1 CACNA2D2 GAD2 GLDC GMPPB MCAT ME2 NPL SLC2A3	2572 2731 27349 29925 4200 427 6515 7915 80896 9254	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050836	focal dystonia	ALDH5A1 ARSG PLA2G6	22901 7915 8398	Homo sapiens (human)	DisGeNET
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	ALDH5A1 ARSG CYP2U1 DBT DPEP1 ECHS1 GAD1 GCDH GLB1 GPI HIBCH MECR PDHA1 PLA2G6 SCP2 SLC39A8 SMUG1 SUCLA2	113612 1629 1800 1892 22901 23583 2571 26275 2639 2720 2821 51102 5160 6342 64116 7915 8398 8803	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050841	focal hand dystonia Aliases: organic writer's cramp	ALDH5A1 AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 CYP2U1 DBT DHDDS DLAT DPEP1 ECHS1 EPM2A GAD1 GBA1 GCDH GCSH GLB1 GLDC GLYCTK GPI HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1	10715 113612 1203 132158 151056 1557 1593 1629 1737 1800 1892 22901 23236 23556 23583 2571 26275 2629 2639 2653 2720 2731 27315 275 2821 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6342 6389 6392 64116 6487 6900 7915 7957 79947 8398 84342 84720 84992 8803 8867 8869 9091 91869 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:7532	squamous papillomatosis	ALDH3A2 PLA2G4A PTEN PTGES PTGS2	224 5321 5728 5743 9536	Homo sapiens (human)	DisGeNET
DOID:0060216	Cogan syndrome Aliases: Cogan's syndrome diffuse interstitual keratitis	ALDH3A2 DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 224 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	ALDH3A2 CPT1A CPT2 CYP7B1 DGAT1 DHCR24 FADS2 HADHA HADHB HSD17B4 LEP LIPC LPIN1 LPIN2 LPIN3 PPARA	1374 1376 1718 224 23175 3030 3032 3295 3952 3990 5465 64900 8694 9415 9420 9663	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:693	dental enamel hypoplasia Aliases: enamel hypoplasia	ALDH3A2 COG6 CYP27B1 CYP2R1 GALNT3 OCRL PTDSS1	120227 1594 224 2591 4952 57511 9791	Homo sapiens (human)	DisGeNET
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	ALDH3A2 CAT CD44 DCN ENPP2 FOLR2 GLB1 ICAM1 KL LGALS3 OXCT1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTGS2 SELE XYLT2	1634 224 2350 2720 3383 3958 5019 5168 5236 5290 5291 5293 5294 5329 5743 6401 64132 847 9365 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12835	quadriplegia Aliases: tetraplegia	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:12697	locked-in syndrome Aliases: Locked in syndrome Locked-in state	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060640	ethylmalonic encephalopathy	ALDH3A2 ANXA5	224 308	Homo sapiens (human)	DisGeNET

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