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 **5101 - 5125** of **7942** in total

« First

‹ Prev

…

201

202

203

204

205

206

207

208

209

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110812	hereditary spastic paraplegia 61 Aliases: SPG61 autosomal recessive spastic paraplegia 61 autosomal recessive spastic paraplegia type 61	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET
DOID:10141	obsolete asthenopia	ALDH2 ALDH3A2 CA4 CACNA2D4 CHST6 CTNS ELOVL1 HADHA HGSNAT HK1 IDH3A IDH3B PCYT1A PIKFYVE PLCD1 PNPLA6 POMGNT1 SPHK2	10908 138050 1497 200576 217 224 3030 3098 3419 3420 4166 5130 5333 55624 56848 64834 762 93589	Homo sapiens (human)	DisGeNET
DOID:13099	Moyamoya disease Aliases: progressive intracranial arterial occlusion	GLA PKD1 SLC2A10 SMPDL3B	2717 27293 5310 81031	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3981	pantothenate kinase-associated neurodegeneration Aliases: Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)	DisGeNET
DOID:3507	dermatofibrosarcoma protuberans	CD38 PTEN VCAN	1462 5728 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060243	stuttering Aliases: familial persistent stuttering stammering	CYP19A1 DLD DPAGT1 GNPTAB GNPTG INPP5D NAGPA PTGDS	1588 1738 1798 3635 51172 5730 79158 84572	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	ACE CHI3L1 GBA1 GGT1 GLDC OGA OGG1 PAFAH1B1 PIK3C2G PLCG2 PRNP PTEN SMUG1 TPI1	10724 1116 1636 23583 2629 2678 2731 4968 5048 5288 5336 5621 5728 7167	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	DPAGT1	1798	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	CAT CYP3A5 PTGES3 ST8SIA1	10728 1577 6489 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9470	bacterial meningitis	ACHE CD14 CHI3L1 ENO2 GALNS ICAM1 LTA4H MBL2 OGG1 PARP1	1116 142 2026 2588 3383 4048 4153 43 4968 929	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	ALDH1A3 COMT DHCR7 GAS1 PTDSS1 SMC3	1312 1717 220 2619 9126 9791	Homo sapiens (human)	DisGeNET
DOID:13994	cleidocranial dysplasia Aliases: Marie-Sainton Disease cleidocranial dysostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	G6PD STS	2539 412	Homo sapiens (human)	DisGeNET
DOID:0060378	orofaciodigital syndrome VIII Aliases: OFD8	CD38 FUT1	2523 952	Homo sapiens (human)	DisGeNET
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	DCN SLC26A2	1634 1836	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:11758	iron deficiency anemia	GPX1 TNF	2876 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	PTGS2	5743	Homo sapiens (human)	DisGeNET
DOID:9746	hemorrhoid Aliases: hemorrhoidal disease	ADH1C ALDH2 CYP1A1 ENO1	126 1543 2023 217	Homo sapiens (human)	DisGeNET
DOID:9478	postpartum depression Aliases: Maternity blues postnatal depression	ABO ACOT7 HSD11B1 MPI STS	11332 28 3290 412 4351	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2965	bursitis	PTGS1 PTGS2	5742 5743	Homo sapiens (human)	DisGeNET
DOID:1573	communicating hydrocephalus	ACSM3 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST3 CNTN5 CNTN6 COMT CRPPA DAG1 DHCR24 EBP EOGT FIG4 FKRP FKTN GALC GBA1 GLDC GMPPB GPC3 GUSB IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 NANS NT5E OGDH PAFAH1B1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SUMF1 UGCG	10329 10585 10682 11041 1312 145173 148789 1605 1718 2218 2581 26229 2629 26503 2719 27255 2731 285203 285362 2990 29925 29954 3423 3425 3897 411 4534 4907 4967 5048 5160 5290 5291 5293 5294 53942 54187 55624 56623 5728 6296 6440 6441 653509 729238 729920 7357 79143 79147 84197 84892 9215 9469 9791 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2156	ovarian germ cell cancer Aliases: germ cell neoplasm of Ovary germ cell tumor of ovary	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0060334	transient neonatal diabetes mellitus	AGPAT2 ASAH1 GCK PDHX SLC2A2	10555 2645 427 6514 8050	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET 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