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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 **6301 - 6325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080587	congenital myasthenic syndrome 22	SLC3A1	6519	Homo sapiens (human)
DOID:2282	hidradenitis Aliases: Hydradenitis	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1	1116 308 3417 3418 3420 3820 4051 6783 79993 8808	Homo sapiens (human)
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	ACE	1636	Homo sapiens (human)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	24465	Rattus norvegicus (Norway rat)
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:8645	subacute delirium	ACHE ACSS2 COMT CYP3A5 ENO2 FCGR3B FIG4 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 SOAT1 UGCG	1312 1577 2026 2215 23659 3958 43 5290 5291 5293 5294 55902 6646 7357 9896	Homo sapiens (human)
DOID:13195	nontoxic goiter Aliases: Goiter, non-toxic Goitre, non-toxic Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre	ABO ALPP ATRNL1 CEACAM5 CEACAM7 GGT1 IDH1 IDH2 LDHA PIK3CA PKM PLA2G2A PLA2G6 PTEN PTGDS SDHB SDHC SDHD TM7SF2	1048 1087 250 26033 2678 28 3417 3418 3939 5290 5315 5320 5728 5730 6390 6391 6392 7108 8398	Homo sapiens (human)
DOID:8466	retinal degeneration Aliases: degeneration of retina	cs	550067	Xenopus tropicalis (tropical clawed frog)
DOID:452	pleomorphic adenoma Aliases: mixed tumor of the Salivary gland	ALDH3A1 B3GAT1 CD44 FASN HPGDS HPRT1 NANS PIK3CA PTEN PTGS2 STS TM7SF2 XYLT1 XYLT2	218 2194 27087 27306 3251 412 5290 54187 5728 5743 64131 64132 7108 960	Homo sapiens (human)
DOID:0060312	angular cheilitis Aliases: angular cheilosis angular stomatitis cheilosis commissural cheilitis	CLEC7A OCRL	4952 64581	Homo sapiens (human)
DOID:9766	xanthogranulomatous cholecystitis	CEACAM5	1048	Homo sapiens (human)
DOID:5505	papillary ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:57	aortic valve insufficiency Aliases: Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency	ACE ACSS2 AKR1C3 ATP6AP2 CAT CHST3 CYP17A1 CYP19A1 CYP1A2 CYP2E1 GNPTAB GNPTG HPGDS HSD3B1 ICAM1 IDH1 IDH2 IDUA MBL2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PTEN PTGES3 SLC2A10 SLC35A1 STS TMTC3	10159 10559 10728 1544 1571 1586 1588 160418 1636 23659 27306 3283 3383 3417 3418 3425 412 4153 5290 5291 5293 5294 5321 55902 5728 79158 81031 84572 847 8644 9469	Homo sapiens (human)
DOID:10286	prostate carcinoma Aliases: cancer of prostate carcinoma of prostate	Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6	31926 34978 34979 34981 36868 37104	Drosophila melanogaster (fruit fly)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	Pomgnt1	362567	Rattus norvegicus (Norway rat)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10	326193	Drosophila melanogaster (fruit fly)
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	Aldob	230163	Mus musculus (house mouse)
DOID:10921	Siberian tick typhus Aliases: North Asian tick fever North Asian tick typhus Rickettsia sibirica spotted fever manchurian typhus	CS	1431	Homo sapiens (human)
DOID:9111	cutaneous leishmaniasis Aliases: Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:2349	arteriosclerosis Aliases: Arteriosclerotic vascular disease	ABO ACACA ACAN ACAT1 ACE ACER2 ACLY ACOT7 ACSL1 ACSS2 ADH5 AGPAT2 AGXT AKR1B10 AKR1B1 ALDH2 ALDH3A1 ALOX12 ALOX15B ALOX5 ALPL ANXA5 APRT ARSB ARSI ATP6AP2 ATP6V0A2 CACNA2D4 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CDH13 CEL CH25H CHGA CHI3L1 CHIT1 CHST3 CLEC4E CLEC5A CLEC6A CLEC7A CLEC9A CNTN3 COLEC12 COMT CPT2 CSGALNACT2 CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DHCR24 DLD ELOVL6 ENPP1 ENPP7 EPHX2 FADS1 FADS2 FCGR3B FDPS FMOD FOLR2 FUT3 FUT7 FUT8 GAL3ST1 GCK GLO1 GPI GPIHBP1 GPX1 H6PD HACD4 HAS2 HAS3 HPGDS HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL1RL1 IL6ST INPP5D INPP5K KL KLRK1 LCAT LDHA LEPR LGALS3 LIPA LIPC LIPG LPCAT3 LPL LTA4H LYPLA1 LYZ MBL2 MGLL MICA MMP17 MRC1 MTAP NAAA NAGLU NAMPT NANS NDUFAB1 NEU1 NT5E OGA OGG1 OLR1 PARP1 PARP3 PC PCYT1B PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G12A PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLAUR PLB1 PLPP3 PNP PNPLA2 PNPLA3 PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RENBP SCD SCP2 SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS1 SGMS2 SGPL1 SIGLEC1 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC33A1 SLC35A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 TBXAS1 TLR4 TM7SF2 TPI1 TYMP UMOD VCAM1 VCAN VNN1	10039 100507436 1012 10135 10159 10162 10400 10434 10555 10559 1056 10724 10855 1113 1116 1118 11332 11343 128 1312 1376 142 1462 1486 151056 1543 1544 1555 1557 1558 1559 1571 1573 1576 1577 1581 1588 1593 1594 1605 1634 1636 166929 1718 1738 176 189 1890 2053 217 218 2180 2215 2224 22914 22933 231 2331 2350 23545 23583 23601 23659 239 240 247 249 2525 2529 2530 259230 26253 26279 2645 26503 27163 27180 27306 2739 28 2821 283420 2876 3037 3038 308 31 3290 3339 3383 338328 339221 340075 340485 3418 3482 353 3572 3635 38 3931 3939 3953 3958 3988 3990 3992 401494 4023 4048 4069 411 412 4153 4326 4360 4507 4669 47 4706 4758 4860 4907 4968 4973 5067 5091 51548 5167 51763 5290 5291 5293 5294 5315 5319 5320 5321 5329 54187 55454 55512 5563 55902 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 5973 6319 6342 6382 6385 6401 6402 6403 64116 6441 64581 6480 6484 6489 653509 6609 6610 6614 6646 6916 7099 7108 7167 729238 7369 7412 79071 7941 79660 80339 81035 811 81579 821 8398 8399 8435 847 8482 8529 8605 8613 8694 8803 8876 8877 8879 9023 912 9173 9197 929 93589 9365 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)
DOID:4682	extrahepatic bile duct carcinoma Aliases: carcinoma of extrahepatic bile duct extrahepatic bile duct cancer	HK2 PIK3CA PTEN PTGS2	3099 5290 5728 5743	Homo sapiens (human)
DOID:9538	multiple myeloma Aliases: myeloma	Hex-t2 Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Lerp N	31293 31926 34978 34979 34981 36868 37104 43191 43223	Drosophila melanogaster (fruit fly)
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	EFNA5 FH GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2271 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	hex-1	180533	Caenorhabditis elegans

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