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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 **1426 - 1450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	ACHE CLEC7A COMT CYP4F3 FASN LYZ PIK3CA PIK3CG PLA2G4A PLCB1	1312 2194 23236 4051 4069 43 5290 5294 5321 64581	Homo sapiens (human)
DOID:0050526	Gamstorp-Wohlfart syndrome Aliases: autosomal recessive neuromyotonia and axonal neuropathy myokymia, myotonia and muscle wasting	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)
DOID:0050989	episodic ataxia type 1	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)
DOID:2479	central nervous system origin vertigo Aliases: Vertigo of central origin central vestibular vertigo	ACHE COMT CYP3A5 FKRP GCDH GLA GYG1 NAGA NT5E SGSH	1312 1577 2639 2717 2992 43 4668 4907 6448 79147	Homo sapiens (human)
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	ACHE DDOST GAPDH MTAP PIGB SMUG1 STT3A STT3B	1650 201595 23583 2597 3703 43 4507 9488	Homo sapiens (human)
DOID:1148	polydactyly Aliases: postaxial polydactyly	ACHE DHCR7 EBP GPC3 HADHB INPP5E PIGX PIK3CA PNPLA6 PTEN SC5D UMOD	10682 10908 1717 2719 3032 43 5290 54965 56623 5728 6309 7369	Homo sapiens (human)
DOID:654	overnutrition	ACHE ECHS1 GPAM LPL MOGAT1 PRKAA2	116255 1892 4023 43 5563 57678	Homo sapiens (human)
DOID:439	neuromuscular junction disease	ACHE GAD2 GFPT1 IDH3A	2572 2673 3419 43	Homo sapiens (human)
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	ACHE GBE1	2632 43	Homo sapiens (human)
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	ACHE HPSE KDSR PLA2G4A	10855 2531 43 5321	Homo sapiens (human)
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	ACHE IDS MTM1 MTMR14 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	3423 43 4534 55613 64419 8776 8897 8898 9107 9108 9110	Homo sapiens (human)
DOID:4697	perineurioma Aliases: soft tissue Perineurioma	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)
DOID:974	upper respiratory tract disease	ACHE	43	Homo sapiens (human)
DOID:0110667	congenital myasthenic syndrome 5 Aliases: CMS Ic CMS5 EAD Engel congenital myasthenic syndrome congenital myasthenic syndrome Engel type congenital myasthenic syndrome type Ic end plate acetylcholinesterase deficiency	ACHE	43	Homo sapiens (human)
DOID:0050161	lower respiratory tract disease	ACHE	43	Homo sapiens (human)
DOID:4847	cauda equina neoplasm Aliases: tumor of the Cauda Equina	ACHE	43	Homo sapiens (human)
DOID:0060814	Wilson-Turner syndrome Aliases: MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity	ACHE	43	Homo sapiens (human)
DOID:2163	nasal cavity disease	ACHE	43	Homo sapiens (human)
DOID:3876	colonic pseudo-obstruction Aliases: primary chronic pseudo-obstruction of colon	ACHE	43	Homo sapiens (human)
DOID:1352	paranasal sinus disease Aliases: disorder of nasal sinus	ACHE	43	Homo sapiens (human)
DOID:6088	acute stress disorder Aliases: traumatic stress disorder	ACHE	43	Homo sapiens (human)
DOID:4491	persian gulf syndrome Aliases: Gulf war syndrome	ACHE	43	Homo sapiens (human)
DOID:3429	inclusion body myositis	ACLY ACOT7 CAT CD38 CD44 CHST3 CYP11A1 CYP17A1 CYP2C19 DAG1 DCN GNE HK1 ICAM1 ISYNA1 PAFAH1B1 PRNP PTEN RENBP SDC1 SIRT2	10020 11332 1557 1583 1586 1605 1634 22933 3098 3383 47 5048 51477 5621 5728 5973 6382 847 9469 952 960	Homo sapiens (human)
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	ACLY ACSL4 ADH1C AGRN AKR1A1 AKR1B10 AKR1C2 ALDH1A3 ALDH3A1 ALDOA ALOX12B ALOX5 AMY1A AMY1B AMY1C ANXA5 APRT B4GALT1 CALR CANX CAT CD44 CD74 CEACAM5 CEACAM6 CEACAM7 CLEC10A CLEC14A CNTN1 CPM CTSA CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 DCN DGKA DHDDS DLD EFNA1 ENO1 ENO2 FASN FOLR2 FUT1 FUT2 FUT3 FUT4 G6PD GAD1 GALK2 GALNT14 GALNT3 GALNT6 GAPDH GBE1 GLB1 GMDS GPC1 GPC3 GPC5 GPI GPX2 GPX3 GUSB HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 ICAM1 IDH1 IDH2 IDH3A IGF2R ISYNA1 LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LPCAT1 LPIN1 LPL LYPD5 MCAT MELTF MGLL MICA MMUT MRC1 MTAP NCAM1 OGG1 OLR1 OPCML PAFAH1B1 PARG PARP1 PFKFB3 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G10 PLA2G2A PLAUR PLB1 PLCG1 PMM2 PRKAA2 PRNP PTEN PTGES3 PTGS2 RECK REG1B RGN RTN4R SCD SDC1 SDC2 SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SIRT6 SLC2A10 SLC2A3 SLC2A5 SLC35A4 SLC3A2 SMUG1 SOAT1 SRGN SULF1 SULF2 TIGAR TM7SF2 TNKS TPI1 UGT1A3 UGT2B17 UGT8 VCAM1 XXYLT1	100507436 10327 10462 1048 10728 10855 1087 11226 11343 113829 126 1272 1368 142 151056 152002 1543 1544 1545 1555 1571 1576 1577 1588 1589 1591 1606 161198 1634 1646 1738 1942 2023 2026 218 2182 2194 220 226 2262 23175 23213 2350 23556 23583 240 242 2523 2524 2525 2526 2539 2571 2585 2591 2597 2632 2683 2719 2720 27306 27349 276 2762 277 278 2817 2821 284348 2877 2878 2990 308 3098 3099 3161 3251 3383 3417 3418 3419 3482 353 375790 3939 3945 3948 3956 3958 3960 4023 4241 4360 4507 4594 4680 4684 47 4968 4973 4978 5048 51477 51548 5209 5290 5291 5293 5294 5311 5315 5320 5329 5335 5373 54659 5476 5552 5563 55959 5621 57016 57103 5728 5743 5968 6319 6382 6383 6403 6440 6441 6470 65078 6515 6518 6520 653509 6646 7108 7167 729238 7367 7368 7412 79623 79888 79947 81031 811 821 8399 8434 847 8482 8505 8658 90161 9104 960 972	Homo sapiens (human)

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