GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **801 - 825** of **7942** in total

« First

‹ Prev

…

29

30

31

32

33

34

35

36

37

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0050955	spinocerebellar ataxia type 2	CAT ELOVL5 HPGDS PLB1 SDHC	151056 27306 60481 6391 847	Homo sapiens (human)	DisGeNET
DOID:0050954	spinocerebellar ataxia type 1	CAT ELOVL5 GLO1 HSD17B6	2739 60481 847 8630	Homo sapiens (human)	DisGeNET
DOID:2378	relapsing-remitting multiple sclerosis Aliases: RRMS Relapsing-remitting MS	CD14 CHI3L1 CSPG4 CYP24A1 DHCR24 HPRT1 ICAM1 KL PLD1 RTN4R SDC1 VCAM1	1116 1464 1591 1718 3251 3383 5337 6382 65078 7412 929 9365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050785	progressive relapsing multiple sclerosis Aliases: PRMS Progressive-relapsing MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)	DisGeNET
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)	DisGeNET
DOID:0050783	secondary progressive multiple sclerosis Aliases: SPMS Secondary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)	DisGeNET
DOID:3454	brain infarction	ACE ADIPOQ ALDH2 CACNA2D1 CAT CHI3L1 CYP11B1 CYP11B2 CYP2R1 DLD GPLD1 GPNMB ICAM1 IGF2 LPL PARG PLD1 PLD2 SACM1L STS TBXAS1 TNF VCAM1	10457 1116 120227 1584 1585 1636 1738 217 22908 2822 3383 3481 4023 412 5337 5338 6916 7124 7412 781 847 8505 9370	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:439	neuromuscular junction disease	ACHE GAD2 GFPT1 IDH3A	2572 2673 3419 43	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111452	progressive myoclonus epilepsy 1A Aliases: EPM1A	ARSA ASAH1 EPM2A NEU1 PFKL PRNP TMED9	410 427 4758 5211 54732 5621 7957	Homo sapiens (human)	DisGeNET
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	ACHE CHI3L1 CLN5 EPM2A GBA1 GLUL GYG1 GYS1 GYS2 NHLRC1 PFKL PPP1R3B PTEN	1116 1203 2629 2752 2992 2997 2998 378884 43 5211 5728 7957 79660	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	CERS1 EPM2A GBA1 NEU1 PRNP	10715 2629 4758 5621 7957	Homo sapiens (human)	DisGeNET
DOID:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	ARSA ASAH1 CERS1 EPM2A GAPDH GBA1 NAGLU NEU1 PFKL PRNP TMED9	10715 2597 2629 410 427 4669 4758 5211 54732 5621 7957	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	ARSA ASAH1 CERS1 EPM2A GAPDH GBA1 NAGLU NEU1 PFKL PRNP TMED9	10715 2597 2629 410 427 4669 4758 5211 54732 5621 7957	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9091	REM sleep behavior disorder Aliases: REM sleep behaviour disorder Rapid eye movement sleep behavior disorder Rapid eye movement sleep behaviour disorder	GBA1 PAFAH1B1 PRNP SMUG1	23583 2629 5048 5621	Homo sapiens (human)	DisGeNET
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	CAT GLUL PTEN UMPS	2752 5728 7372 847	Homo sapiens (human)	DisGeNET
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	ACE ACSS2 CD44 CPT1A CYP19A1 GAPDH GPNMB LGALS3 PARP1 PLA2G1B PLAAT3 PLB1 PTGS2 SELL SFTPA1 SFTPA2 SFTPD	10457 11145 1374 142 151056 1588 1636 2597 3958 5319 55902 5743 6402 6441 653509 729238 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5604	adult acute lymphocytic leukemia Aliases: adult ALL adult acute lymphoid Leukemia	ABO ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CAT CD22 CD33 CD38 CD44 CD48 CD55 CD72 CEL CERS6 CHI3L1 CNTFR CYP1A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GGT1 HK1 HPGDS HPRT1 ICAM1 IDH1 IDH2 IL18R1 IL1RL1 LIPA LSS MBL2 MSLN MTAP NAAA NCAM1 NT5E PARP9 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PRKAA2 PRPS1 PTEN SELE SFTPD SHMT1 SLC27A5 SOAT1 SPHK2 UMOD UNG	10232 1056 10998 1116 1271 1543 1555 1571 1576 1577 1604 2026 2131 2271 231 23659 248 250 2526 253782 2539 2571 2678 27087 27163 27306 28 308 3098 3251 3383 3417 3418 353 3988 3992 4047 4051 4153 4507 4684 4907 5287 5290 5291 5293 5294 5305 5563 55902 5631 56848 5728 6401 6441 6470 6646 7369 7374 83666 847 8644 8809 9173 933 945 952 960 962 971	Homo sapiens (human)	DisGeNET
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	CTSA DCN	1634 5476	Homo sapiens (human)	DisGeNET
DOID:13945	CADASIL Aliases: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy hereditary multi-infarct dementia	CTSA DCN	1634 5476	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3996	urinary system cancer	ACE ACSS2 CEACAM5 CEACAM7 COMT OGG1 PLA2G15	1048 1087 1312 1636 23659 4968 55902	Homo sapiens (human)	DisGeNET
DOID:1811	reflex sympathetic dystrophy	ACE CYP19A1 CYP24A1 ENO1 GAPDH GPC6 GPD2 GPX1 IDH2 KL MGLL OXCT1 PGLS PKM PNP TPI1	10082 11343 1588 1591 1636 2023 25796 2597 2820 2876 3418 4860 5019 5315 7167 9365	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	COMT GNE PIK3C2A	10020 1312 5286	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE GALK1 GALT	2582 2584 2592	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060171	obsolete Dravet syndrome	ALDH7A1 EPM2A	501 7957	Homo sapiens (human)	DisGeNET
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)	DisGeNET

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements