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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 **851 - 875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080750	erythema nodosum	TNF	7124	Homo sapiens (human)
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	algn-8	174542	Caenorhabditis elegans
DOID:0080855	Parkinsonism	ABAT BAD COMT ENO2 GBA1 GFRA1 GFRA2 GSK3A KCNJ11 PTGS2	1312 18 2026 2629 2674 2675 2931 3767 572 5743	Homo sapiens (human)
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	Chi3l1 Enpp1 Idh1 Pgf Tp53	24479 24842 85496 89824 94203	Rattus norvegicus (Norway rat)
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Gba1 Tnf	14466 21926	Mus musculus (house mouse)
DOID:2364	post-thrombotic syndrome Aliases: Postphlebetic syndrome with inflammation Postphlebetic syndrome with ulcer Postphlebetic syndrome with ulcer and inflammation postphlebitic syndrome venous stress disorder	ABO	28	Homo sapiens (human)
DOID:219	colon cancer	Akt1 Bad Gsk3b Hs3st2 Mapk14 Prkaa1	105787 11651 12015 195646 26416 56637	Mus musculus (house mouse)
DOID:5295	intestinal disease	ACE ALG8 CAT CD44 CEACAM5 CEACAM6 CEACAM7 COG6 DGAT1 G6PC1 GP2 GUSB LCT LPIN2 LYZ MICA MUTYH NCAM1 OGA PARP1 PTGS1 PTGS2 REG1B SI STS	100507436 1048 10724 1087 142 1636 2538 2813 2990 3938 4069 412 4595 4680 4684 5742 5743 57511 5968 6476 79053 847 8694 960 9663	Homo sapiens (human)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	ogt-1	176000	Caenorhabditis elegans
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	Adipoq Adrb1 Chi3l1 Htr2a Il1rl1 Lep Lepr Ppargc1a Tlr4 Tnf	11450 11554 12654 15558 16846 16847 17082 19017 21898 21926	Mus musculus (house mouse)
DOID:5077	subependymal giant cell astrocytoma Aliases: SEGA	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	B3GLCT COLEC10 COLEC11 FKRP FKTN GAD1 GPC3 LARGE1 MASP1 MTMR3 NSDHL POMT1 POMT2 SDC2 TGDS TNKS2 TNKS	10584 10585 145173 2218 23483 2571 2719 29954 50814 5648 6383 78989 79147 80351 8658 8897 9215	Homo sapiens (human)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	33658	Drosophila melanogaster (fruit fly)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	large1	446213	Danio rerio (zebrafish)
DOID:3267	mucinous ovarian cystadenoma Aliases: Ovarian mucinous Cystadenoma mucinous cystadenoma of ovary	FH	2271	Homo sapiens (human)
DOID:3559	pseudomyxoma peritonei Aliases: mucinous Ascites	CEACAM5 CEACAM7 FUT8 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	1048 1087 23583 2530 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	Fktn	246179	Mus musculus (house mouse)
DOID:4131	erythrasma Aliases: Infection due to Corynebacterium minutissimum	CAT	847	Homo sapiens (human)
DOID:0080409	familial adenomatous polyposis 1	ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CLC CNTN1 DLD DPEP1 ENPP7 FUT4 G6PD GALNT12 GCK GLB1 GUSB HPGDS KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 RPE RPIA SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1178 126 1272 142 151056 1604 1738 1800 192134 220 22914 22934 23583 246 250 2526 2539 2645 2720 27306 2990 308 339221 3938 3960 4360 4595 4913 4968 5048 5290 5291 5293 5294 5311 5319 5320 5321 5336 54659 5563 570 5716 5728 5742 5743 6120 6609 6646 7941 79695 811 8398 8399 8658 873 9536 960	Homo sapiens (human)
DOID:580	uric acid nephrolithiasis Aliases: acute urate nephropathy	AGPAT2 AGXT ALPL ALPP APRT ATRNL1 CAT CD14 CD44 CLC CTNS CYP24A1 CYP27A1 CYP3A5 DGKD DGKH ENO1 G6PC1 GPX1 GRHPR HAO1 HPGDS HPRT1 HSPG2 ITPKC KL NTNG1 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCD1 PRPS1 PTGS2 SI SLC37A4 SLC3A1 UGT1A1 UMOD	10555 1178 1497 1577 1591 1593 160851 189 2023 22854 249 250 2538 2542 26033 27306 2876 3251 3339 353 4952 5290 5291 5293 5294 5310 5333 54363 54658 5631 5743 6476 6519 7369 80271 847 8527 929 9365 9380 960	Homo sapiens (human)
DOID:8466	retinal degeneration Aliases: degeneration of retina	cs	322339	Danio rerio (zebrafish)
DOID:715	obsolete T-cell lymphoblastic leukemia/lymphoma	CD209 CD38 CD44 CNTN2 COMT CYP19A1 FCGR3B FUT4 ICAM1 LGALS1 LGALS9 MRC1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN SACM1L SELL SIGLEC7 SOAT1 TALDO1 TMED9 VCAM1	1312 1588 2215 22908 2526 27036 30835 3383 3956 3965 4360 4507 4684 4860 5290 5291 5293 5294 54732 5728 6402 6646 6888 6900 7412 952 960	Homo sapiens (human)
DOID:962	neurofibroma	ACHE CD38 CD44 CNTN2 PTEN SDHB SDHC SMUG1 SOAT1	23583 43 5728 6390 6391 6646 6900 952 960	Homo sapiens (human)
DOID:4543	retrograde amnesia	ACHE ACSF3 ALOX5 ARSA ARSD CAT CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 ELOVL3 FKRP FUT10 GAD1 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 KL LGALS3 LGALS4 MYORG NAGLU NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 UGT1A1	10020 10724 1103 1116 1312 1374 138050 142 1544 1545 197322 23583 240 2571 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 653509 6609 79147 83401 8398 847 84750 8803 8867 9365 960 972	Homo sapiens (human)
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	Cpt1a	12894	Mus musculus (house mouse)

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