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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 **5301 - 5325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 TNF TP53 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7124 7157 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370	Homo sapiens (human)
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ABO ACE ALPP ATRNL1 B3GAT1 CD14 CD1D CD74 CLEC16A CNTN5 COG6 CYP21A2 CYP3A4 CYP7A1 DAG1 DBT DGCR2 DGKQ DLAT DLST FH GGT1 GLB1 HK1 HPGDS ICAM1 IL18R1 ITLN1 L1CAM LEP LEPR LGALS3 MANBA MBL2 OGDH PDHX PIK3CA PLCB1 PNPLA3 POGLUT1 PPARGC1A PTGS2 SOAT1 TNF UGT2B4 VCAM1 VTCN1	10891 1576 1581 1589 1605 1609 1629 1636 1737 1743 2271 23236 23274 250 26033 2678 27087 2720 27306 28 3098 3383 3897 3952 3953 3958 4126 4153 4967 5290 53942 55600 56983 5743 57511 6646 7124 7363 7412 79679 80339 8050 8809 912 929 972 9993	Homo sapiens (human)
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	ACE	1636	Homo sapiens (human)
DOID:0111646	congenital lactase deficiency Aliases: CLD congenital alactasia congenital alactasia syndrome congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance II	LCT	3938	Homo sapiens (human)
DOID:9080	macroglobulinemia Aliases: primary macroglobulinemia	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:5363	myxoid liposarcoma Aliases: Myxoid/round cell liposarcoma	EBP PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	10682 23583 5290 5291 5293 5294	Homo sapiens (human)
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	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)
DOID:437	myasthenia gravis	ACHE APRT B3GAT1 CD55 CDIPT CDS1 CLC CNTFR CYP21A2 CYP3A5 IL18R1 LGALS1 LGALS8 NCAM1	1040 10423 1178 1271 1577 1589 1604 27087 353 3956 3964 43 4684 8809	Homo sapiens (human)
DOID:4407	phototoxic dermatitis Aliases: Photosensitisation reaction Photosensitive Dermatitis Photosensitiveness	ANXA5 CAT DGAT1 FCGR3B FOLR1 INPP5K PARP1 PTGS2 RPE SMUG1 SOAT1 TMED9	142 2215 2348 23583 308 51763 54732 5743 6120 6646 847 8694	Homo sapiens (human)
DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma Aliases: cutaneous T cell lymphoma cutaneous T-cell lymphoma	ANXA5 CD22 CD44 CHI3L1 CNTN2 LGALS1 LGALS9 MBL2 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCG1 PTEN PTGS2 SDC4 SELL SIRT2 SOAT1 TIGAR	1116 22933 308 3956 3965 4153 4507 4684 5290 5291 5293 5294 5315 5335 57103 5728 5743 6385 6402 6646 6900 933 960	Homo sapiens (human)
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:12337	varicocele Aliases: Scrotal varices	CAT CHPT1 DHDDS FASN HPGDS LYPD5 MGLL OGG1 PIK3CA PTEN	11343 2194 27306 284348 4968 5290 56994 5728 79947 847	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:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1 TNF	1116 308 3417 3418 3420 3820 4051 6783 7124 79993 8808	Homo sapiens (human)
DOID:11981	morbid obesity Aliases: Severe obesity	ACACB ACE ACHE ACSS2 ATP6AP2 BAAT CNTN3 CPT1B CYP2E1 ENPP1 FDFT1 GAD2 GGT1 GHRL GPX1 LPIN1 LPL MRC1 NAMPT NCAN PFKFB3 PNPLA3 SCD SLC2A4 TKTL1	10135 10159 1375 1463 1571 1636 2222 23175 2572 2678 2876 32 4023 43 4360 5067 5167 51738 5209 55902 570 6319 6517 80339 8277	Homo sapiens (human)
DOID:1788	peritoneal mesothelioma Aliases: Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum	CEACAM5 CEACAM7 FUT4 HAS1 PIK3CA PTEN PTGS2 SDC1 SMUG1	1048 1087 23583 2526 3036 5290 5728 5743 6382	Homo sapiens (human)
DOID:0060362	punctate palmoplantar keratoderma type III Aliases: acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3	MGAM SI	6476 8972	Homo sapiens (human)
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ACE ADH1A ADH5 AKR1D1 ALDH1B1 ALG8 ALPP AMACR ATRNL1 BAAT CAT CD14 CD44 CHIT1 COG6 CYP17A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP3A4 CYP3A5 CYP7A1 CYP7B1 CYP8B1 DCN DGAT2 DLAT ERLEC1 FH G6PD GGT1 HADHA HADHB HAO2 HJV HOGA1 HSD17B4 HSD3B7 ICAM1 LIPA LYZ MBOAT1 NPL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PRKAA1 PRKAA2 PTGDS PYGM SLC17A5 SULT1E1 SULT2B1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1	1118 112817 124 128 148738 154141 1544 1555 1557 1559 1576 1577 1581 1582 1586 1593 1634 1636 1737 219 2271 23600 250 2539 26033 26503 2678 27248 3030 3032 3295 3383 3988 4069 51179 5290 5291 5293 5294 5319 5320 54575 54576 54577 54578 54657 54658 54659 5562 5563 570 5730 57511 5837 6718 6783 6820 7363 7412 79053 80270 80896 8398 84649 847 929 9420 960	Homo sapiens (human)
DOID:0080333	aortic valve disease 1	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)
DOID:0060463	NUT midline carcinoma Aliases: nuclear protein in testis midline carcinoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:3168	squamous cell neoplasm Aliases: Epidermoid cell tumor squamous cell tumor	ADH4 ADH5 ADH7 AKR1A1 CEACAM5 CEACAM7 CHPT1 CYP1B1 CYP2E1 CYP2J2 DHDDS ENO2 GPX1 HPGDS KLRK1 LTA4H LYPD5 MICA PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2	100507436 10327 1048 1087 127 128 131 1545 1571 1573 2026 22914 27306 284348 2876 4048 51196 5130 5290 5291 5293 5294 56994 5728 5743 79947	Homo sapiens (human)

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