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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 **7676 - 7700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110238	cataract 18 Aliases: CATC2 CTRCT18 autosomal recessive congenital cataract 2 cataract 18 autosomal recessive	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	PTGS2	5743	Homo sapiens (human)
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	KCNQ1 NT5E	3784 4907	Homo sapiens (human)
DOID:11151	cholecystolithiasis	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:0080169	tricuspid atresia	COMT PLD1	1312 5337	Homo sapiens (human)
DOID:0060180	colitis	Ppargc1a Tlr4	29260 83516	Rattus norvegicus (Norway rat)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	pofut2	779585	Xenopus tropicalis (tropical clawed frog)
DOID:0002116	pterygium Aliases: surfer's eye	ACE ALDH3A1 CAT CYP1A1 G6PD GPC6 ICAM2 IL1R1 OGG1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLD1 PTEN PTGS2 SEMA7A ST3GAL3 TP53	10082 1543 1636 218 2539 3384 3554 4968 5130 5290 5291 5293 5294 5337 5728 5743 6487 7157 847 8482	Homo sapiens (human)
DOID:331	central nervous system disease	ABO ACE ACHE ACO2 ALDH3A2 ALDH7A1 ARSA ARSB B4GALNT1 BST2 CACNA2D2 CD1D CD38 CD44 CDH13 CH25H CHAT CHI3L1 CHKB COL9A2 COLGALT1 COMT CPT1B CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 CYP3A4 DEGS1 DLD EBP ECHS1 ELOVL4 ENO2 ENPP2 EPM2A FCN2 GAD1 GAD2 GALNT14 GBA1 GBA2 GCDH GLB1 GLUL GOLPH3 GPC5 GPI GPX1 GUSB HK1 HPGDS HPRT1 HS6ST3 ICAM1 IDH2 IDH3A IDS IDUA INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MBL2 MDGA2 MGAT1 MGLL NAGA NCAM1 NCAN NDST3 NEU3 NYX OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 RTN4R SARM1 SEMA7A SGSH SHMT1 SIGLEC7 SIRT2 SLC17A5 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 SUMF1 TMED9 TPI1	1012 10558 10682 10724 10825 10908 1103 1116 1120 11343 1298 1312 1375 142 1463 149175 151056 1544 1555 1558 1559 1576 1593 161357 1636 1727 1738 1892 2026 2220 224 2262 22933 23098 23583 2571 2572 2583 2629 2639 26503 266722 27036 2720 27306 2752 28 2821 283871 284098 285362 2876 2990 3098 3251 3383 3418 3419 3423 3425 3636 3897 4069 4099 410 411 4126 4153 4245 43 4668 4684 4860 4967 50 501 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 60506 64083 64116 6448 6470 65078 6517 6609 6785 684 7167 7903 7957 79623 79709 8398 8399 8482 8560 8803 9023 912 9254 9348 9365 952 960	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:0060670	cerebral cavernous malformation 2	SMUG1	23583	Homo sapiens (human)
DOID:1639	skeletal tuberculosis Aliases: osteoarticular tuberculosis	AGA	175	Homo sapiens (human)
DOID:12804	mucopolysaccharidosis IV Aliases: Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency	ACAN AGA ALDH3A2 ALG9 ALPL APRT ARSA ARSB ARSG ARSH B3GAT3 B4GALT7 CANX CAT CD1D CD38 CHST1 CHST3 COL9A2 CTSA DPEP1 EBP ENPP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HS6ST1 HSPG2 HYAL1 HYAL2 IDS IDUA L1CAM LFNG MAN2B1 NAGLU NANS NEU1 NT5E OGA PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SLC35G1 SMUG1 SPAM1 ST3GAL1 ST3GAL2 ST3GAL4 SUMF1 XYLT1	10020 10682 10724 11285 1298 138050 159371 175 176 1800 1836 2135 2137 224 22901 23169 23443 23583 249 2517 2523 2588 26229 2720 2799 285362 2990 3339 3373 3423 3425 347527 353 3897 3955 410 411 4125 4669 4758 4907 5167 5238 54187 5476 5728 64131 6448 6482 6483 6484 6677 79158 79796 821 84572 847 8534 8692 9060 912 9394 9469 952	Homo sapiens (human)
DOID:127	leiomyoma Aliases: leiomyomatous neoplasm leiomyomatous tumor	parp-1	266823	Caenorhabditis elegans
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	GLB1 KL PLAUR	2720 5329 9365	Homo sapiens (human)
DOID:672	spleen cancer Aliases: Splenic neoplasm malignant Splenic tumor malignant tumour of spleen spleen neoplasm	CEACAM5	1048	Homo sapiens (human)
DOID:10155	intestinal cancer Aliases: malignant intestinal tumors malignant neoplasm of intestine	N	31293	Drosophila melanogaster (fruit fly)
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	dpm-1	176874	Caenorhabditis elegans
DOID:10754	otitis media	Enpp1 Nisch Tlr2 Tlr4 Tnf	18605 21898 21926 24088 64652	Mus musculus (house mouse)
DOID:4313	epidermolysis bullosa acquisita Aliases: acquired epidermolysis bullosa	PIK3CA PIK3CB PIK3CD PIK3CG SELL	5290 5291 5293 5294 6402	Homo sapiens (human)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	dpagt1	100487779	Xenopus tropicalis (tropical clawed frog)
DOID:8057	olfactory groove meningioma Aliases: meningioma of the Olfactory Groove	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:8743	erythema infectiosum Aliases: Fifth disease	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:11204	allergic conjunctivitis	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:2433	epidermal appendage tumor Aliases: neoplasm of skin with adnexal differentiation neoplasm of the skin Appendage skin appendage tumour	ACACA	31	Homo sapiens (human)

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